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dbsnp-database

Query NCBI dbSNP to resolve genetic variants and retrieve clinical significance.

269|20|Updated Jun 13, 2026
Search Tags:#bioinformatics#genomics#genetics#ncbi#variants#dbsnp
One-click install
npx skills add https://github.com/NeuroAIHub/BrainPilot --skill dbsnp-database-neuroaihub
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: dbsnp-database
Source: https://github.com/NeuroAIHub/BrainPilot/tree/main/packages/skills/skills/18_Genetics_Genomics/dbsnp-database
Command: npx skills add https://github.com/NeuroAIHub/BrainPilot --skill dbsnp-database-neuroaihub

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill requires polite-http, python-dotenv, and includes scripts (resource) and references (resource) components.

What problem does it solve?

This skill resolves the complexity of querying NCBI's dbSNP database, allowing researchers to quickly map genetic variants, retrieve clinical significance, and find population allele frequencies without manual API orchestration.

Core Features & Use Cases

  • Variant Resolution: Convert VCF coordinates, HGVS strings, or rsIDs into standardized genomic data.
  • Regional Surveying: Identify all known variants within a specific chromosomal range.
  • Use Case: A researcher needs to determine the clinical significance and population frequency of a specific SNP found in a sequencing study; this skill automates the multi-step lookup process across NCBI services.

Quick Start

Use the dbsnp-database skill to fetch the variant record for rs7412 and save the output to a file named variant_data.json.

Frequently Asked Questions about dbsnp-database

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I query NCBI dbSNP to retrieve clinical significance and population allele frequencies for a genetic variant?▼

You can convert VCF coordinates, HGVS strings, or rsIDs into standardized genomic data. The skill queries the NCBI dbSNP database to resolve these inputs, retrieving detailed variant information including clinical significance and population allele frequencies.

Can I convert VCF coordinates and parse HGVS strings using RefSeq assemblies?▼

Yes, VCF coordinate conversion and HGVS string parsing are supported. The skill implements assembly-aware lookups using RefSeq assemblies to ensure accurate data retrieval and mapping for short genetic variants.

What is the best way to find all known short genetic variants within a specific chromosomal range?▼

Regional surveying allows you to identify all known short genetic variants within a specific chromosomal range. The skill queries the NCBI dbSNP database to discover variants across the specified genomic region.

Does querying NCBI dbSNP require rate-limiting to avoid API restrictions?▼

Yes, querying NCBI dbSNP requires rate-limiting to avoid API restrictions. The skill implements robust rate-limiting using polite-http dependencies to ensure accurate and uninterrupted data retrieval from NCBI services.

How do I fetch and save a variant record for a specific rsID like rs7412?▼

Use the skill to fetch the variant record for rs7412 by querying the NCBI dbSNP database. The retrieved output can be saved directly to a file named variant_data.json for further analysis.

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