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.

Livelast probed 2026-04-30 23:07Z· 84msCortexa

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed: 1d ago
Last success: 1d ago
Last latency: 84ms

Schema

JSON Schema the agent (or your API call) must match.

{
  "properties": {
    "species": {
      "default": "homo_sapiens",
      "description": "Species name. Use 'homo_sapiens' for human. Default: 'homo_sapiens'.",
      "type": "string"
    },
    "variant_id": {
      "description": "Variant rsID. Examples: 'rs429358' (APOE e4), 'rs7903146' (TCF7L2 diabetes), 'rs1801133' (MTHFR).",
      "type": "string"
    }
  },
  "required": [
    "variant_id"
  ],
  "type": "object"
}

Examples (1)

Default EnsemblPheno Get By Variant call

public-safeinput

{
  "variant_id": ""
}

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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