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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 14-24964647-C-CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24964647&ref=C&alt=CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 24964647,
      "ref": "C",
      "alt": "CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG",
      "effect": "intron_variant",
      "transcript": "ENST00000323944.10",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.154+9988_154+10017dupCACACACACACACACACACACACACACACA",
          "hgvs_p": null,
          "transcript": "NM_001394410.1",
          "protein_id": "NP_001381339.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 210,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 633,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4190,
          "mane_select": "ENST00000323944.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.154+10017_154+10018insCACACACACACACACACACACACACACACA",
          "hgvs_p": null,
          "transcript": "ENST00000323944.10",
          "protein_id": "ENSP00000324302.5",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": 210,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 633,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4190,
          "mane_select": "NM_001394410.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
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          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.154+10017_154+10018insCACACACACACACACACACACACACACACA",
          "hgvs_p": null,
          "transcript": "ENST00000396700.5",
          "protein_id": "ENSP00000379928.1",
          "transcript_support_level": 1,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 4021,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STXBP6",
          "gene_hgnc_id": 19666,
          "hgvs_c": "c.154+10017_154+10018insCACACACACACACACACACACACACACACA",
          "hgvs_p": null,
          "transcript": "ENST00000419632.6",
          "protein_id": "ENSP00000397212.2",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": 210,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1970,
          "mane_select": null,
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 2,
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          "gene_symbol": "STXBP6",
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          "hgvs_c": "c.154+10017_154+10018insCACACACACACACACACACACACACACACA",
          "hgvs_p": null,
          "transcript": "ENST00000546511.5",
          "protein_id": "ENSP00000449536.1",
          "transcript_support_level": 1,
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        {
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          "gene_symbol": "STXBP6",
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          "transcript": "NM_001304476.3",
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        {
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