get_gene
Look up a human gene: identifiers, location, MANE Select transcript, ClinGen gene-disease validity.
Use for questions about a gene rather than a specific variant. Transcripts are listed with MANE Select first and capped; check total_transcripts.
Tool call template
Replace each placeholder with a value matching the input schema. Only required parameters are included; add optional parameters as needed.
{
"id": 1,
"jsonrpc": "2.0",
"method": "tools/call",
"params": {
"arguments": {
"gene": "<gene>"
},
"name": "get_gene"
}
}Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| gene | Yes | Gene symbol (BRCA1), alias, HGNC id (HGNC:1100), 'entrez:672' or Ensembl id (ENSG...). | |
| include_transcripts | No | Also list the gene's transcripts. |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| chr | Yes | ||
| end | Yes | ||
| link | Yes | ||
| name | Yes | ||
| start | Yes | ||
| symbol | Yes | ||
| hgnc_id | Yes | ||
| message | No | Set when an alias matched several genes | |
| ncbi_id | Yes | ||
| omim_id | Yes | ||
| truncated | No | ||
| ensembl_id | Yes | ||
| uniprot_id | Yes | ||
| transcripts | Yes | ||
| total_transcripts | Yes | ||
| mane_select_refseq | Yes | ||
| mane_select_ensembl | Yes | ||
| alternative_hgnc_ids | No | ||
| gene_disease_validity | Yes | ||
| total_gene_disease_entries | Yes |