Phenotypes Coding Variants

curl --request GET \
  --url https://catalog-api-dev.demo.igvf.org/api/phenotypes/coding-variants

import requests

url = "https://catalog-api-dev.demo.igvf.org/api/phenotypes/coding-variants"

response = requests.get(url)

print(response.text)

const options = {method: 'GET'};

fetch('https://catalog-api-dev.demo.igvf.org/api/phenotypes/coding-variants', options)
  .then(res => res.json())
  .then(res => console.log(res))
  .catch(err => console.error(err));

[
  {
    "score": 123,
    "source": "<string>",
    "source_url": "<string>",
    "coding_variant": {
      "_id": "<string>",
      "aapos": 123,
      "hgvsp": "<string>",
      "protein_name": "<string>",
      "gene_name": "<string>",
      "ref": "<string>",
      "alt": "<string>"
    },
    "phenotype": {
      "phenotype_id": "<string>",
      "phenotype_name": "<string>"
    },
    "method": "<string>",
    "class": "<string>",
    "label": "<string>",
    "files_filesets": "<string>",
    "variant": {
      "chr": "<string>",
      "pos": 123,
      "ref": "<string>",
      "alt": "<string>",
      "rsid": [
        "<string>"
      ],
      "spdi": "<string>",
      "hgvs": "<string>",
      "ca_id": "<string>",
      "_id": "<string>"
    }
  }
]

{
  "message": "<string>",
  "code": "<string>",
  "issues": [
    {
      "message": "<string>"
    }
  ]
}

API Reference

Phenotypes Coding Variants

Retrieve coding variants associated with the query phenotype.

The limit parameter controls the page size and can not exceed 100.

Pagination is 0-based.

Examples by method

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

DUAL-IPA:

query by phenotype identifier

phenotype_id = BAO_0040014
method = DUAL-IPA

query by files_fileset

Each files_fileset maps to at most one method, so a method filter is usually not necessary.

files_fileset = IGVFFI6224HZMG
method = DUAL-IPA

ESM-1v:

query by phenotype identifier

phenotype_id = GO_0003674
method = ESM-1v

query by files_fileset

Each files_fileset maps to at most one method, so a method filter is usually not necessary.

files_fileset = IGVFFI8105TNNO
method = ESM-1v

MutPred2:

query by phenotype identifier

phenotype_id = GO_0003674
method = MutPred2

query by files_fileset

Each files_fileset maps to at most one method, so a method filter is usually not necessary.

files_fileset = IGVFFI6893ZOAA
method = MutPred2

SGE:

query by phenotype identifier

phenotype_id = NCIT_C16407
method = SGE

query by files_fileset

Each files_fileset maps to at most one method, so a method filter is usually not necessary.

files_fileset = IGVFFI2810SLAX
method = SGE

VAMP-seq:

query by phenotype identifier

phenotype_id = OBA_0000128
method = VAMP-seq

query by files_fileset

Each files_fileset maps to at most one method, so a method filter is usually not necessary.

files_fileset = IGVFFI0629IIQU
method = VAMP-seq

Phenotypes Coding Variants

curl --request GET \
  --url https://catalog-api-dev.demo.igvf.org/api/phenotypes/coding-variants

import requests

url = "https://catalog-api-dev.demo.igvf.org/api/phenotypes/coding-variants"

response = requests.get(url)

print(response.text)

const options = {method: 'GET'};

fetch('https://catalog-api-dev.demo.igvf.org/api/phenotypes/coding-variants', options)
  .then(res => res.json())
  .then(res => console.log(res))
  .catch(err => console.error(err));

[
  {
    "score": 123,
    "source": "<string>",
    "source_url": "<string>",
    "coding_variant": {
      "_id": "<string>",
      "aapos": 123,
      "hgvsp": "<string>",
      "protein_name": "<string>",
      "gene_name": "<string>",
      "ref": "<string>",
      "alt": "<string>"
    },
    "phenotype": {
      "phenotype_id": "<string>",
      "phenotype_name": "<string>"
    },
    "method": "<string>",
    "class": "<string>",
    "label": "<string>",
    "files_filesets": "<string>",
    "variant": {
      "chr": "<string>",
      "pos": 123,
      "ref": "<string>",
      "alt": "<string>",
      "rsid": [
        "<string>"
      ],
      "spdi": "<string>",
      "hgvs": "<string>",
      "ca_id": "<string>",
      "_id": "<string>"
    }
  }
]

{
  "message": "<string>",
  "code": "<string>",
  "issues": [
    {
      "message": "<string>"
    }
  ]
}

Query Parameters

phenotype_id

string

phenotype_name

string

method

enum<string>

Available options:

DUAL-IPA,

ESM-1v,

MutPred2,

SGE,

VAMP-seq

files_fileset

string

page

number

default:0

limit

number

Response

Successful response

score

number | null

required

source

string

required

source_url

string

required

coding_variant

object | null

Show child attributes

phenotype

object | null

Show child attributes

method

string | null

class

string | null

label

string | null

files_filesets

string | null

variant

object | null

Show child attributes

Phenotypes Variants Ontology Terms