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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
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