Cortexa research tool·chemistry·gene2phenotype

G2P Get Record

Get detailed Gene2Phenotype (G2P) record for a specific gene-disease association by its stable ID. Returns comprehensive clinical genetics information including locus details (gene symbol, genomic coordinates, cross-references), genotype/inheritance pattern, variant consequences (with Sequence Ontology terms), molecular mechanism with evidence, disease details with ontology terms, confidence level, and supporting publications. Use G2P_search first to find stable IDs.

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": {
    "stable_id": {
      "description": "G2P stable identifier (e.g., 'G2P01796', 'G2P00119', 'G2P00979'). Get IDs from G2P_search results.",
      "type": "string"
    }
  },
  "required": [
    "stable_id"
  ],
  "type": "object"
}

Examples (1)

Default G2P Get Record call

public-safeinput

{
  "stable_id": ""
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_G2P_get_record
Tool name: G2P_get_record
Added: 2026-04-30 22:47Z
Tags: tooluniverse

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