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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: 16-16090365-CAT-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16090365&ref=CAT&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 16090365,
      "ref": "CAT",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_004996.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2461-39_2461-38delAT",
          "hgvs_p": null,
          "transcript": "NM_004996.4",
          "protein_id": "NP_004987.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000399410.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004996.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2461-39_2461-38delAT",
          "hgvs_p": null,
          "transcript": "ENST00000399410.8",
          "protein_id": "ENSP00000382342.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004996.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000399410.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2284-39_2284-38delAT",
          "hgvs_p": null,
          "transcript": "ENST00000572882.3",
          "protein_id": "ENSP00000461615.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1472,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000572882.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2617-39_2617-38delAT",
          "hgvs_p": null,
          "transcript": "ENST00000914156.1",
          "protein_id": "ENSP00000584215.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1583,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4752,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914156.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2461-39_2461-38delAT",
          "hgvs_p": null,
          "transcript": "ENST00000399408.7",
          "protein_id": "ENSP00000382340.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1541,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4626,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000399408.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2449-39_2449-38delAT",
          "hgvs_p": null,
          "transcript": "ENST00000914151.1",
          "protein_id": "ENSP00000584210.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1527,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4584,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914151.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2419-39_2419-38delAT",
          "hgvs_p": null,
          "transcript": "ENST00000914157.1",
          "protein_id": "ENSP00000584216.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1517,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914157.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2335-39_2335-38delAT",
          "hgvs_p": null,
          "transcript": "NM_019901.2",
          "protein_id": "NP_063956.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1489,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019901.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2335-39_2335-38delAT",
          "hgvs_p": null,
          "transcript": "ENST00000914139.1",
          "protein_id": "ENSP00000584198.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1489,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000914139.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 30,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2323-39_2323-38delAT",
          "hgvs_p": null,
          "transcript": "ENST00000914141.1",
          "protein_id": "ENSP00000584200.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "ABCC1",
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          "hgvs_c": "c.2314-39_2314-38delAT",
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          "transcript": "NM_019902.2",
          "protein_id": "NP_063957.2",
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "hgvs_c": "c.2293-39_2293-38delAT",
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          "transcript": "NM_001438755.1",
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          "transcript": "ENST00000914148.1",
          "protein_id": "ENSP00000584207.1",
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        {
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          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2188-39_2188-38delAT",
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          "transcript": "ENST00000914149.1",
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      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}