eFetch Snp

eFetch Snp retrieves SNP (Single Nucleotide Polymorphism) records from NCBI dbSNP given a list of SNP IDs to support genetic variant annotation and downstream analyses.


Key Features:

  • Entrez E-utilities: Uses NCBI Entrez Programming Utilities to programmatically query NCBI resources.
  • dbSNP integration: Accesses dbSNP records as the authoritative source of SNP data.
  • SNP attribute retrieval: Retrieves explicit SNP attributes including genomic location, allele frequency, and phenotype-related annotations.
  • Batch/high-throughput processing: Accepts lists of SNP IDs and is intended to handle large datasets for bulk retrieval.

Scientific Applications:

  • Genetic research: Provides SNP data for association studies, population genetics, and evolutionary analyses.
  • Medical genetics: Supports identification of SNPs associated with disease phenotypes and drug response for precision medicine research.
  • Bioinformatics analyses: Supplies variant information for genome-wide association studies (GWAS) and comparative genomics workflows.

Methodology:

Queries the dbSNP database via NCBI Entrez Programming Utilities (E-utilities) using provided SNP ID lists to retrieve dbSNP records and their annotated attributes.

Topics

Details

Tool Type:
api
Operating Systems:
Linux, Windows, Mac
Added:
8/3/2015
Last Updated:
11/25/2024

Operations

Publications

Unknown Authors. Database resources of the National Center for Biotechnology Information. Nucleic Acids Research. 2013;42(D1):D7-D17. doi:10.1093/nar/gkt1146. PMID:24259429. PMCID:PMC3965057.

Documentation

Links