clinvar_query
Query ClinVar for clinical variants by gene or variant name and retrieve pathogenicity classifications (pathogenic, benign, uncertain significance) to support clinical variant interpretation.
Instructions
Query ClinVar clinical variants (via NCBI E-utilities). 查询 ClinVar 临床变异:输入基因名或变异,返回临床意义分类(致病/良性/意义不明),for clinical variant interpretation. 用于变异临床解读。
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| query | Yes | ||
| max_results | No |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |