variant_annotate
Annotate human genetic variants by HGVS or rsID to obtain allele frequency, functional predictions, gene, and clinical significance for variant interpretation.
Instructions
Annotate human genetic variants (MyVariant.info). 注释人类基因变异:输入 HGVS(如 chr13:g.32911145G>A)或 rsID,returns allele frequency (GnomAD/1000G), functional predictions (SIFT/PolyPhen), gene and clinical significance. 返回人群频率、功能预测、基因与临床意义,for variant interpretation. 用于变异解读。
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| variant | Yes |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |