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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.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 12 lines · 253 chars
Examples (1)
Default G2P Get Record call
public-safeinput
JSON · 3 lines · 21 chars
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