GET variation/{species}/{id}Get detailed information about a genetic variant by its ID. Returns population frequencies, genotypes, phenotypes, citations, and clinical significance for variants catalogued in Ensembl. Works with dbSNP rsIDs, COSMIC IDs, and other variant sources. The most comprehensive variant lookup endpoint for accessing Ensembl's variation database.
Uses a variant identifier (e.g., rsID) to return the variation features including optional genotype, phenotype and population data.
- Population frequencies are from 1000 Genomes, gnomAD, and other sources - The `clinical_significance` field links to ClinVar annotations - `phenotype_associations` include GWAS catalog hits and OMIM links - `synonyms` shows alternative IDs for the same variant - Genotype data may be available for some studies
(boolean, query, optional, default: False)
Include genotype data
(string, path, required)
Variant identifier (e.g., rs699, rs17822931)
(boolean, query, optional, default: False)
Include phenotype data
(boolean, query, optional, default: False)
Include population data
(string, path, required)
Species name (e.g., human)
| Title | Type | URL | Action |
|---|---|---|---|
| Get variant information for rs699 | probe-gate |
https://rest.ensembl.org/variation/homo_sapiens/rs699?content-type=application/json |
No probe data for this endpoint yet.