GET /phenotype/gene/{species}/{gene}Retrieve phenotype associations for a specific gene. Given a gene symbol or Ensembl ID, returns disease associations, GWAS hits, and other phenotype data linked to the gene. Useful for understanding what diseases or traits a gene is associated with. Each association includes source, description, and statistical significance if available.
Retrieve phenotype annotations associated with a gene.
- Gene can be specified as symbol (BRCA2) or Ensembl ID (ENSG00000139618) - Sources include OMIM, ClinVar, GWAS catalog, and Orphanet - Each association includes a p-value if from GWAS - The `phenotype` field describes the condition or trait - Multiple associations per gene are common - the same gene may be linked to different phenotypes
(string, path, required)
Gene stable ID or symbol
(string, path, required)
Species name
| Title | Type | URL | Action |
|---|---|---|---|
| Get phenotypes associated with BRCA2 gene | probe-gate |
https://rest.ensembl.org/phenotype/gene/homo_sapiens/ENSG00000139618?content-type=application/json |
No probe data for this endpoint yet.