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bio-clinical-databases-dbsnp-queries

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

Query dbSNP for rsID lookups, variant annotations, and cross-references to other databases. Use when mapping between rsIDs and genomic coordinates or retrieving basic variant information.

OpenClawNanoClaw分析处理复现实验bio-clinical-databases-dbsnp-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-dbsnp-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().getvariant('rs12345')。
  • Look up variant information by rsID" → Retrieve variant annotations，genomic coordinates，、 cross-references to ClinVar/gnomAD ，面向 dbSNP ，使用 REST API queries. Python：myvariant.MyVariantInfo().getvariant('rs12345')。
  • Goal：Retrieve variant information ，涵盖 dbSNP，ClinVar，、 gnomAD annotations by rsID。
  • Approach：Query myvariant.info ，支持 rsID 、 request specific annotation fields。

原始文档

SKILL.md 摘录

Query via NCBI Entrez

Goal: Search and fetch dbSNP records directly from NCBI using Entrez E-utilities.

Approach: Use BioPython Entrez esearch to find SNP IDs, then efetch to retrieve full XML records.

Map Coordinates to rsID

Goal: Find the rsID corresponding to a genomic position and allele change.

Approach: Construct an HGVS notation from coordinates and query myvariant.info for the dbSNP rsID field.

Variant Classes in dbSNP

ClassDescription
snvSingle nucleotide variant
insInsertion
delDeletion
indelInsertion/deletion
mnvMultiple nucleotide variant

适用场景

  • 适合在mapping between rsIDs 、 genomic coordinates 或 retrieving basic variant information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

  • myvariant-queries - Aggregated variant queries
  • clinvar-lookup - ClinVar pathogenicity
  • database-access/entrez-search - General Entrez queries

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