G2P Search
Search the Gene2Phenotype (G2P) database for gene-disease associations curated by clinical geneticists. G2P is maintained by EBI and provides expert-curated evidence for gene-disease relationships used in clinical diagnosis. Returns gene-disease pairs with genotype (monoallelic/biallelic), molecular mechanism (loss/gain of function), clinical panel assignment (DD, Cancer, Skeletal, etc.), and confidence level (definitive, strong, moderate, limited). Useful for clinical variant interpretation an…
Overview
Search the Gene2Phenotype (G2P) database for gene-disease associations curated by clinical geneticists. G2P is maintained by EBI and provides expert-curated evidence for gene-disease relationships used in clinical diagnosis. Returns gene-disease pairs with genotype (monoallelic/biallelic), molecular mechanism (loss/gain of function), clinical panel assignment (DD, Cancer, Skeletal, etc.), and confidence level (definitive, strong, moderate, limited). Useful for clinical variant interpretation and genetic diagnosis.
Status
The most recent probe succeeded. Safe to call from the agent today.
- Last probed
- 1d ago
- Last success
- 1d ago
- Last latency
- 104ms
Schema
JSON Schema the agent (or your API call) must match.
{
"properties": {
"page": {
"description": "Page number for pagination (default 1)",
"type": [
"integer",
"null"
]
},
"query": {
"description": "Search query - gene symbol (e.g., 'BRCA1', 'TP53') or disease name (e.g., 'epilepsy', 'cardiomyopathy', 'cancer')",
"type": "string"
}
},
"required": [
"query"
],
"type": "object"
}Examples (1)
Default G2P Search call
{
"query": "BRCA1"
}Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_G2P_search
- Tool name
- G2P_search
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse