Cortexa research tool·genomics·ensembl_phenotype

EnsemblPheno Get By Gene

Get phenotype associations for a gene from the Ensembl REST API. Returns diseases, traits, and clinical conditions linked to the gene, aggregated from multiple sources including Cancer Gene Census, OMIM, ClinVar, NHGRI-EBI GWAS catalog, and Orphanet. Each entry includes the phenotype description, data source, genomic location, and ontology accessions (EFO, HP, Orphanet). Example: BRCA1 returns 162 phenotype associations across multiple cancer types and other conditions.

Livelast probed 2026-04-30 23:07Z· 108msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 108ms

Schema

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

{
  "properties": {
    "gene": {
      "description": "Gene symbol. Examples: 'BRCA1', 'TP53', 'EGFR', 'KRAS', 'BRAF'.",
      "type": "string"
    },
    "species": {
      "default": "homo_sapiens",
      "description": "Species name. Use 'homo_sapiens' for human. Default: 'homo_sapiens'.",
      "type": "string"
    }
  },
  "required": [
    "gene"
  ],
  "type": "object"
}

Examples (1)

Default EnsemblPheno Get By Gene call

public-safeinput

{
  "gene": "BRCA1"
}

Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID: tu_EnsemblPheno_get_by_gene
Tool name: EnsemblPheno_get_by_gene
Added: 2026-04-30 22:47Z
Tags: tooluniverse

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