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数据与复现临床医学与医药FreedomIntelligence/OpenClaw-Medical-Skills数据与复现
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bio-clinical-databases-myvariant-queries

维护者 FreedomIntelligence · 最近更新 2026年4月1日

Query myvariant.info API for aggregated variant annotations from multiple databases (ClinVar, gnomAD, dbSNP, COSMIC, etc.) in a single request. Use when annotating variants with clinical and population data from multiple sources simultaneously.

OpenClawNanoClaw分析处理复现实验bio-clinical-databases-myvariant-queries🧬 bioinformatics (gptomics bio-* suite)bioinformatics — clinical databases & variant analysisquery

原始来源

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-clinical-databases-myvariant-queries

维护者
FreedomIntelligence
许可
MIT
最近更新
2026年4月1日

技能摘要

来自 SKILL.md 的关键信息

2 min

核心说明

  • Python：myvariant.MyVariantInfo().getvariants(ids，fields='clinvar，gnomad，dbnsfp')。
  • Annotate my variants ，面向 multiple databases at once" → Query myvariant.info aggregation API to retrieve ClinVar，gnomAD，dbSNP，COSMIC，、 other annotations in single request per variant. Python：myvariant.MyVariantInfo().getvariants(ids，fields='clinvar，gnomad，dbnsfp')。
  • result = mv.getvariant('chr7：g.140453136A>T')。

原始文档

SKILL.md 摘录

Query Single Variant

Goal: Retrieve aggregated annotations for a single variant from multiple databases in one request.

Approach: Query myvariant.info by HGVS notation or rsID, which returns ClinVar, gnomAD, dbSNP, COSMIC, and CADD data.


## Query by rsID

result = mv.getvariant('rs121913527')

## Query by gene and protein change

result = mv.getvariant('BRAF:p.V600E')

适用场景

  • 适合在annotating variants ，支持 clinical 、 population data ，面向 multiple sources simultaneously时使用。

不适用场景

  • Do not rely on this catalog entry alone ，用于 installation 或 maintenance details。

上游相关技能

  • clinvar-lookup - Detailed ClinVar queries
  • gnomad-frequencies - gnomAD-specific frequency queries
  • dbsnp-queries - dbSNP rsID lookups

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