> ## Documentation Index
> Fetch the complete documentation index at: https://docs.catalog.igvf.org/llms.txt
> Use this file to discover all available pages before exploring further.

# Genes Variants

> Retrieve variant-gene pairs including eQTLs & splice QTLs from AFGR and eQTL Catalogue, and CRISPR screen and Variant-EFFECTS from IGVF, by Ensembl gene ids.

The following parameters can be used to set thresholds on -log10 p_value: gt (>), gte (>=), lt (\<), lte (\<=).

Set verbose = true to retrieve full info on the corresponding variants and genes.

At least one of these properties must be defined: gene_id, hgnc_id, gene_name, region, alias, method, or files_fileset.

The limit parameter controls the page size and can not exceed 500.

Pagination is 0-based.

**Examples by method**

These examples are grouped by method; use the `method` filter to return data from a specific method.

**eQTL:**

**Single result**

- gene_id = ENSG00000187642
- neg_log10_pvalue = gte:24.5
- method = eQTL

**Group results**

- alias = PERM1
- method = eQTL

**spliceQTL:**

**Single result**

- gene_id = ENSG00000188976
- neg_log10_pvalue = gt:45
- effect_size = gt:0.5
- method = spliceQTL

**Group results**

- alias = NOC2L
- method = spliceQTL

**Variant-EFFECTS:**

**Single result**

- gene_id = ENSG00000108179
- neg_log10_pvalue = gt:13.1
- method = Variant-EFFECTS

**Group results**

- alias = PPIF
- method = Variant-EFFECTS

**CRISPR screen:**

**query by gene identifier**

- gene_id = ENSG00000177455
- method = CRISPR screen

**query by gene name**

- gene_name = CD19
- method = CRISPR screen



## OpenAPI

````yaml /openapi/catalog-dev.openapi.json get /genes/variants
openapi: 3.0.3
info:
  title: IGVF Catalog - Development
  description: >-
    Development IGVF Catalog OpenAPI compliant REST API built using tRPC with
    Express.


    Our database uses 0-based, half-open coordinates for genomic coordinates in
    the GRCh38 (human) and GRCm39 (mouse) reference genomes.


    Data is licensed under the Creative Commons license and the software is
    licensed under the MIT license.
  version: 1.2.0 - DEV
servers:
  - url: https://catalog-api-dev.demo.igvf.org/api
security: []
externalDocs:
  url: https://api-dev.catalog.igvf.org/openapi
paths:
  /genes/variants:
    get:
      summary: Genes Variants
      description: >-
        Retrieve variant-gene pairs including eQTLs & splice QTLs from AFGR and
        eQTL Catalogue, and CRISPR screen and Variant-EFFECTS from IGVF, by
        Ensembl gene ids.


        The following parameters can be used to set thresholds on -log10
        p_value: gt (>), gte (>=), lt (\<), lte (\<=).


        Set verbose = true to retrieve full info on the corresponding variants
        and genes.


        At least one of these properties must be defined: gene_id, hgnc_id,
        gene_name, region, alias, method, or files_fileset.


        The limit parameter controls the page size and can not exceed 500.


        Pagination is 0-based.


        **Examples by method**


        These examples are grouped by method; use the `method` filter to return
        data from a specific method.


        **eQTL:**


        **Single result**


        - gene_id = ENSG00000187642

        - neg_log10_pvalue = gte:24.5

        - method = eQTL


        **Group results**


        - alias = PERM1

        - method = eQTL


        **spliceQTL:**


        **Single result**


        - gene_id = ENSG00000188976

        - neg_log10_pvalue = gt:45

        - effect_size = gt:0.5

        - method = spliceQTL


        **Group results**


        - alias = NOC2L

        - method = spliceQTL


        **Variant-EFFECTS:**


        **Single result**


        - gene_id = ENSG00000108179

        - neg_log10_pvalue = gt:13.1

        - method = Variant-EFFECTS


        **Group results**


        - alias = PPIF

        - method = Variant-EFFECTS


        **CRISPR screen:**


        **query by gene identifier**


        - gene_id = ENSG00000177455

        - method = CRISPR screen


        **query by gene name**


        - gene_name = CD19

        - method = CRISPR screen
      operationId: variantsFromGenes
      parameters:
        - name: gene_id
          in: query
          required: false
          schema:
            type: string
        - name: hgnc_id
          in: query
          required: false
          schema:
            type: string
        - name: gene_name
          in: query
          required: false
          schema:
            type: string
        - name: alias
          in: query
          required: false
          schema:
            type: string
        - name: neg_log10_pvalue
          in: query
          required: false
          schema:
            type: string
        - name: effect_size
          in: query
          required: false
          schema:
            type: string
        - name: biosample_term
          in: query
          required: false
          schema:
            type: string
        - name: biological_context
          in: query
          required: false
          schema:
            type: string
        - name: label
          in: query
          required: false
          schema:
            type: string
            enum:
              - eQTL
              - spliceQTL
              - variant effect on gene expression
        - name: method
          in: query
          required: false
          schema:
            type: string
            enum:
              - CRISPR screen
              - Variant-EFFECTS
              - eQTL
              - spliceQTL
        - name: files_fileset
          in: query
          required: false
          schema:
            type: string
        - name: source
          in: query
          required: false
          schema:
            type: string
            enum:
              - AFGR
              - EBI
              - IGVF
        - name: name
          in: query
          required: false
          schema:
            type: string
            enum:
              - expression modulated by
              - splicing modulated by
        - name: organism
          in: query
          required: false
          schema:
            type: string
            enum:
              - Homo sapiens
            default: Homo sapiens
        - name: verbose
          in: query
          required: false
          schema:
            type: string
            enum:
              - 'true'
              - 'false'
            default: 'false'
        - name: page
          in: query
          required: false
          schema:
            type: number
            default: 0
        - name: limit
          in: query
          required: false
          schema:
            type: number
      responses:
        '200':
          description: Successful response
          content:
            application/json:
              schema:
                type: array
                items:
                  type: object
                  properties:
                    gene:
                      anyOf:
                        - type: string
                        - type: object
                          properties:
                            _id:
                              type: string
                            chr:
                              type: string
                            start:
                              type: number
                              nullable: true
                            end:
                              type: number
                              nullable: true
                            gene_type:
                              type: string
                              nullable: true
                            name:
                              type: string
                            strand:
                              type: string
                              nullable: true
                            hgnc:
                              type: string
                              nullable: true
                            entrez:
                              type: string
                              nullable: true
                            collections:
                              type: array
                              items:
                                type: string
                              nullable: true
                            study_sets:
                              type: array
                              items:
                                type: string
                              nullable: true
                            source:
                              type: string
                            version:
                              type: string
                            source_url:
                              type: string
                            synonyms:
                              type: array
                              items:
                                type: string
                              nullable: true
                          required:
                            - _id
                            - chr
                            - start
                            - end
                            - gene_type
                            - name
                            - source
                            - version
                            - source_url
                          additionalProperties: false
                      nullable: true
                    sequence_variant:
                      anyOf:
                        - type: string
                        - type: object
                          properties:
                            _id:
                              type: string
                            chr:
                              type: string
                            pos:
                              type: number
                            rsid:
                              type: array
                              items:
                                type: string
                              nullable: true
                            ref:
                              type: string
                            alt:
                              type: string
                            spdi:
                              type: string
                            hgvs:
                              type: string
                            ca_id:
                              type: string
                              nullable: true
                            strain:
                              type: array
                              items:
                                type: string
                              nullable: true
                            qual:
                              type: string
                              nullable: true
                            files_filesets:
                              type: string
                              nullable: true
                            annotations:
                              type: object
                              properties:
                                bravo_af:
                                  type: number
                                  nullable: true
                                gnomad_af_total:
                                  type: number
                                  nullable: true
                                gnomad_af_afr:
                                  type: number
                                  nullable: true
                                gnomad_af_afr_female:
                                  type: number
                                  nullable: true
                                gnomad_af_afr_male:
                                  type: number
                                  nullable: true
                                gnomad_af_ami:
                                  type: number
                                  nullable: true
                                gnomad_af_ami_female:
                                  type: number
                                  nullable: true
                                gnomad_af_ami_male:
                                  type: number
                                  nullable: true
                                gnomad_af_amr:
                                  type: number
                                  nullable: true
                                gnomad_af_amr_female:
                                  type: number
                                  nullable: true
                                gnomad_af_amr_male:
                                  type: number
                                  nullable: true
                                gnomad_af_asj:
                                  type: number
                                  nullable: true
                                gnomad_af_asj_female:
                                  type: number
                                  nullable: true
                                gnomad_af_asj_male:
                                  type: number
                                  nullable: true
                                gnomad_af_eas:
                                  type: number
                                  nullable: true
                                gnomad_af_eas_female:
                                  type: number
                                  nullable: true
                                gnomad_af_eas_male:
                                  type: number
                                  nullable: true
                                gnomad_af_female:
                                  type: number
                                  nullable: true
                                gnomad_af_fin:
                                  type: number
                                  nullable: true
                                gnomad_af_fin_female:
                                  type: number
                                  nullable: true
                                gnomad_af_fin_male:
                                  type: number
                                  nullable: true
                                gnomad_af_male:
                                  type: number
                                  nullable: true
                                gnomad_af_nfe:
                                  type: number
                                  nullable: true
                                gnomad_af_nfe_female:
                                  type: number
                                  nullable: true
                                gnomad_af_nfe_male:
                                  type: number
                                  nullable: true
                                gnomad_af_oth:
                                  type: number
                                  nullable: true
                                gnomad_af_oth_female:
                                  type: number
                                  nullable: true
                                gnomad_af_oth_male:
                                  type: number
                                  nullable: true
                                gnomad_af_sas:
                                  type: number
                                  nullable: true
                                gnomad_af_sas_male:
                                  type: number
                                  nullable: true
                                gnomad_af_sas_female:
                                  type: number
                                  nullable: true
                                gnomad_af_raw:
                                  type: number
                                  nullable: true
                                GENCODE_category:
                                  type: string
                                  nullable: true
                                funseq_description:
                                  type: string
                                  nullable: true
                              additionalProperties: false
                              nullable: true
                            source:
                              type: string
                            source_url:
                              type: string
                            organism:
                              type: string
                              nullable: true
                          required:
                            - _id
                            - chr
                            - pos
                            - ref
                            - alt
                            - annotations
                            - source
                            - source_url
                            - organism
                          additionalProperties: false
                      nullable: true
                    intron_chr:
                      type: string
                      nullable: true
                    intron_start:
                      type: string
                      nullable: true
                    intron_end:
                      type: string
                      nullable: true
                    effect_size:
                      type: number
                      nullable: true
                    neg_log10_pvalue:
                      anyOf:
                        - type: number
                        - type: string
                      nullable: true
                    neg_log10_pvalue_adj:
                      type: number
                      nullable: true
                    log2FC:
                      type: number
                      nullable: true
                    posterior_inclusion_probability:
                      type: number
                      nullable: true
                    coefficient_stddev:
                      type: number
                      nullable: true
                    power:
                      type: number
                      nullable: true
                    significant:
                      type: boolean
                      nullable: true
                    standard_error:
                      type: number
                      nullable: true
                    z_score:
                      type: number
                      nullable: true
                    credible_set_min_r2:
                      type: number
                      nullable: true
                    method:
                      type: string
                      nullable: true
                    crispr_modality:
                      type: string
                      nullable: true
                    source:
                      type: string
                    source_url:
                      type: string
                    label:
                      type: string
                    p_value:
                      type: number
                      nullable: true
                    chr:
                      type: string
                      nullable: true
                    biological_context:
                      type: string
                    biosample_term:
                      type: string
                    study:
                      anyOf:
                        - type: string
                        - type: object
                          properties:
                            _id:
                              type: string
                            name:
                              type: string
                            ancestry_initial:
                              type: string
                              nullable: true
                            ancestry_replication:
                              type: string
                              nullable: true
                            n_cases:
                              type: string
                              nullable: true
                            n_initial:
                              type: string
                              nullable: true
                            n_replication:
                              type: string
                              nullable: true
                            pmid:
                              type: string
                              nullable: true
                            pub_author:
                              type: string
                              nullable: true
                            pub_date:
                              type: string
                              nullable: true
                            pub_journal:
                              type: string
                              nullable: true
                            pub_title:
                              type: string
                              nullable: true
                            has_sumstats:
                              type: string
                              nullable: true
                            num_assoc_loci:
                              type: string
                              nullable: true
                            study_source:
                              type: string
                              nullable: true
                            trait_reported:
                              type: string
                              nullable: true
                            trait_efos:
                              type: string
                              nullable: true
                            trait_category:
                              type: string
                              nullable: true
                            source:
                              type: string
                            study_type:
                              type: string
                              nullable: true
                            version:
                              type: string
                              nullable: true
                          required:
                            - _id
                            - name
                            - ancestry_initial
                            - ancestry_replication
                            - n_cases
                            - n_initial
                            - n_replication
                            - pmid
                            - pub_author
                            - pub_date
                            - pub_journal
                            - pub_title
                            - has_sumstats
                            - num_assoc_loci
                            - study_source
                            - trait_reported
                            - trait_efos
                            - trait_category
                            - study_type
                            - version
                          additionalProperties: false
                      nullable: true
                    name:
                      type: string
                      nullable: true
                    class:
                      type: string
                      nullable: true
                  required:
                    - gene
                    - sequence_variant
                    - source
                    - source_url
                    - label
                    - biological_context
                    - biosample_term
                  additionalProperties: false
        default:
          $ref: '#/components/responses/error'
components:
  responses:
    error:
      description: Error response
      content:
        application/json:
          schema:
            type: object
            properties:
              message:
                type: string
              code:
                type: string
              issues:
                type: array
                items:
                  type: object
                  properties:
                    message:
                      type: string
                  required:
                    - message
                  additionalProperties: false
            required:
              - message
              - code
            additionalProperties: false

````