Coding Variants Phenotypes
API Reference
Coding Variants Phenotypes
Retrieve phenotypes associated with the query coding variant.
At least one of these fields is required: coding_variant_name, hgvsp, uniprot_name, gene_name, amino_acid_position, transcript_id, method, files_fileset.
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:
Single result
- coding_variant_name = ACSF3_ENST00000317447_p.Ala17Pro_c.49G-C
- method = DUAL-IPA
Group results
- gene_name = ACSF3
- method = DUAL-IPA
ESM-1v:
Single result
- coding_variant_name = A1BG_ENST00000263100_p.Ala118Asn_c.352_353delinsAA
- method = ESM-1v
Group results
- gene_name = A1BG
- method = ESM-1v
MutPred2:
Single result
- coding_variant_name = A1BG_ENST00000263100_p.Ala118Arg_c.352_353delinsCG
- method = MutPred2
Group results
- gene_name = A1BG
- method = MutPred2
SGE:
Single result
- coding_variant_name = BRCA2_ENST00000380152__NC_000013.11:g.32319075A-C_splicing
- method = SGE
Group results
- gene_name = BRCA2
- method = SGE
VAMP-seq:
Single result
- coding_variant_name = CYP2C19_ENST00000371321_p.Ala103=_c.309T-G
- method = VAMP-seq
Group results
- gene_name = CYP2C19
- method = VAMP-seq
Coding Variants Phenotypes
Query Parameters
Available options:
DUAL-IPA, ESM-1v, MutPred2, SGE, VAMP-seq