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Cortexa research tool·genomics·ensembl_phenotype
EnsemblPheno Get By Variant
Get phenotype associations for a specific variant (by rsID) from the Ensembl REST API. Returns traits, diseases, and phenotypes associated with the variant from NHGRI-EBI GWAS catalog, ClinVar, and other sources. Includes risk alleles, beta coefficients/odds ratios, p-values, and study references. Example: rs429358 (APOE epsilon 4 variant) returns 1004 phenotype associations including Alzheimer disease, LDL cholesterol levels, and metabolite measurements.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 17 lines · 427 chars
Examples (1)
Default EnsemblPheno Get By Variant call
public-safeinput
JSON · 3 lines · 22 chars
Expected response keys: success
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_EnsemblPheno_get_by_variant
- Tool name
- EnsemblPheno_get_by_variant
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse