get_gene
Read-onlyIdempotent
Retrieve human gene identifiers, genomic location, MANE Select transcript, and ClinGen gene-disease validity. Optionally list transcripts to answer gene-level questions.
Instructions
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.
Input Schema
TableJSON 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
TableJSON 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 |