Cortexa research tool·genomics·ensembl_phenotype

EnsemblPheno Get By Region

Get phenotype associations for all variants and genes in a genomic region from the Ensembl REST API. Returns disease/trait associations from GWAS catalog, ClinVar, Cancer Gene Census, etc. for features overlapping the specified region. Useful for understanding the phenotypic landscape of a genomic interval, especially for interpreting GWAS loci or candidate regions. Example: TP53 region (chr17:7661779-7687538) returns phenotype associations from the NHGRI-EBI GWAS catalog.

Livelast probed 2026-04-30 23:07Z· 107msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 107ms

Schema

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

{
  "properties": {
    "feature_type": {
      "description": "Filter by feature type: 'Variation' (variants only), 'Gene' (genes only), 'QTL' (quantitative trait loci). Default: all types.",
      "type": [
        "string",
        "null"
      ]
    },
    "region": {
      "description": "Genomic region in format 'chromosome:start-end'. Example: '17:7661779-7687538' for TP53, '17:43044295-43125482' for BRCA1. Keep regions under 5Mb for reasonable response times.",
      "type": "string"
    },
    "species": {
      "default": "homo_sapiens",
      "description": "Species name. Use 'homo_sapiens' for human. Default: 'homo_sapiens'.",
      "type": "string"
    }
  },
  "required": [
    "region"
  ],
  "type": "object"
}

Examples (1)

Default EnsemblPheno Get By Region call

public-safeinput

{
  "region": ""
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_EnsemblPheno_get_by_region
Tool name: EnsemblPheno_get_by_region
Added: 2026-04-30 22:47Z
Tags: tooluniverse

EnsemblPheno Get By Region

Livelast probed 2026-04-30 23:07Z· 107msCortexa

Schema

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

{ "properties": { "feature_type": { "description": "Filter by feature type: 'Variation' (variants only), 'Gene' (genes only), 'QTL' (quantitative trait loci). Default: all types.", "type": [ "string", "null" ] }, "region": { "description": "Genomic region in format 'chromosome:start-end'. Example: '17:7661779-7687538' for TP53, '17:43044295-43125482' for BRCA1. Keep regions under 5Mb for reasonable response times.", "type": "string" }, "species": { "default": "homo_sapiens", "description": "Species name. Use 'homo_sapiens' for human. Default: 'homo_sapiens'.", "type": "string" } }, "required": [ "region" ], "type": "object" }