Skills

Dbsnp Database

Use when you want to look up, map, and search for short genetic variants (SNPs, indels)...

Install

npx skills add google-deepmind/science-skills --skill dbsnp-database -g -a claude-code -y
Category
Data and ML
Updated
12d ago
License
Apache-2.0
Context cost
Mediumabout 3,000 tokens
Runs scripts
Yes, review before use

What it does

Use when you want to look up, map, and search for short genetic variants (SNPs, indels) in NCBI's dbSNP database. Resolves between rsIDs, genomic coordinates in VCF format, and HGVS strings. For an rsID, returns variant type, gene associations, clinical significance, allele frequencies, and genomic coordinates (GRCh38).

dbSNP Database Integration

Prerequisites

  1. uv: Read the uv skill and follow its Setup instructions to ensure uv is installed and on PATH.
  2. User Notification: If .licenses/dbsnp_database_LICENSE.txt does not already exist in the workspace root directory then (1) prominently notify the user to check the terms at https://www.ncbi.nlm.nih.gov/snp/, then (2) create the file recording the notification text and timestamp.
  3. .env file: Make sure the .env file exists in your home directory. Create one if it does not exist.
  4. NCBI_API_KEY (optional): Raises the NCBI rate limit from 3 to 10 requests/second. The skill works without it, but a key is recommended if the user plans many queries or encounters a 429 error. You can register for a key for free at https://www.ncbi.nlm.nih.gov/account/settings/. You MUST use the safe credentials protocol in the credentials skill to check for and request this key if this skill looks relevant to the user's request.

Core Rules

  • Use the Wrapper: ALWAYS execute the provided wrapper script scripts/dbsnp_cli.py to query the database rather than constructing custom HTTP or curl requests. The script automatically handles rate limiting, retries, and JSON parsing.
  • Command Choice: Do NOT use search-region to find the rsID of a specific variant; use resolve-variant instead.
  • Output Size: Avoid using --full on get-variant unless specifically needed, as raw payloads can exceed 1 MB.
  • Shell Safety: Always wrap HGVS strings in single quotes to prevent shell expansion errors.
  • Notification: If this skill is used, ensure this is mentioned in the output.

When to Use

Use this skill when you need to:

Read the whole SKILL.md on GitHub

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