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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: 10-109865261-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=109865261&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 109865261,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001324133.2",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1924G>A",
          "hgvs_p": "p.Glu642Lys",
          "transcript": "NM_020383.4",
          "protein_id": "NP_065116.3",
          "transcript_support_level": null,
          "aa_start": 642,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": 1924,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000502935.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_020383.4"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1924G>A",
          "hgvs_p": "p.Glu642Lys",
          "transcript": "ENST00000502935.6",
          "protein_id": "ENSP00000421566.1",
          "transcript_support_level": 1,
          "aa_start": 642,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": 1924,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_020383.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000502935.6"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1852G>A",
          "hgvs_p": "p.Glu618Lys",
          "transcript": "ENST00000322238.12",
          "protein_id": "ENSP00000324011.8",
          "transcript_support_level": 1,
          "aa_start": 618,
          "aa_end": null,
          "aa_length": 642,
          "cds_start": 1852,
          "cds_end": null,
          "cds_length": 1929,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000322238.12"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "n.3889G>A",
          "hgvs_p": null,
          "transcript": "ENST00000488118.6",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000488118.6"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.2047G>A",
          "hgvs_p": "p.Glu683Lys",
          "transcript": "ENST00000927705.1",
          "protein_id": "ENSP00000597764.1",
          "transcript_support_level": null,
          "aa_start": 683,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 2047,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000927705.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.2044G>A",
          "hgvs_p": "p.Glu682Lys",
          "transcript": "ENST00000891178.1",
          "protein_id": "ENSP00000561237.1",
          "transcript_support_level": null,
          "aa_start": 682,
          "aa_end": null,
          "aa_length": 706,
          "cds_start": 2044,
          "cds_end": null,
          "cds_length": 2121,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891178.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1982G>A",
          "hgvs_p": "p.Gly661Glu",
          "transcript": "NM_001324133.2",
          "protein_id": "NP_001311062.1",
          "transcript_support_level": null,
          "aa_start": 661,
          "aa_end": null,
          "aa_length": 695,
          "cds_start": 1982,
          "cds_end": null,
          "cds_length": 2088,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001324133.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1984G>A",
          "hgvs_p": "p.Glu662Lys",
          "transcript": "ENST00000942378.1",
          "protein_id": "ENSP00000612437.1",
          "transcript_support_level": null,
          "aa_start": 662,
          "aa_end": null,
          "aa_length": 686,
          "cds_start": 1984,
          "cds_end": null,
          "cds_length": 2061,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942378.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1948G>A",
          "hgvs_p": "p.Glu650Lys",
          "transcript": "ENST00000942379.1",
          "protein_id": "ENSP00000612438.1",
          "transcript_support_level": null,
          "aa_start": 650,
          "aa_end": null,
          "aa_length": 674,
          "cds_start": 1948,
          "cds_end": null,
          "cds_length": 2025,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942379.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1909G>A",
          "hgvs_p": "p.Glu637Lys",
          "transcript": "NM_001324136.1",
          "protein_id": "NP_001311065.1",
          "transcript_support_level": null,
          "aa_start": 637,
          "aa_end": null,
          "aa_length": 661,
          "cds_start": 1909,
          "cds_end": null,
          "cds_length": 1986,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001324136.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1873G>A",
          "hgvs_p": "p.Glu625Lys",
          "transcript": "NM_001324135.2",
          "protein_id": "NP_001311064.1",
          "transcript_support_level": null,
          "aa_start": 625,
          "aa_end": null,
          "aa_length": 649,
          "cds_start": 1873,
          "cds_end": null,
          "cds_length": 1950,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001324135.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1873G>A",
          "hgvs_p": "p.Glu625Lys",
          "transcript": "ENST00000891174.1",
          "protein_id": "ENSP00000561233.1",
          "transcript_support_level": null,
          "aa_start": 625,
          "aa_end": null,
          "aa_length": 649,
          "cds_start": 1873,
          "cds_end": null,
          "cds_length": 1950,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891174.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1852G>A",
          "hgvs_p": "p.Glu618Lys",
          "transcript": "NM_001167604.2",
          "protein_id": "NP_001161076.1",
          "transcript_support_level": null,
          "aa_start": 618,
          "aa_end": null,
          "aa_length": 642,
          "cds_start": 1852,
          "cds_end": null,
          "cds_length": 1929,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001167604.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1828G>A",
          "hgvs_p": "p.Glu610Lys",
          "transcript": "ENST00000891176.1",
          "protein_id": "ENSP00000561235.1",
          "transcript_support_level": null,
          "aa_start": 610,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 1828,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891176.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1825G>A",
          "hgvs_p": "p.Glu609Lys",
          "transcript": "ENST00000942377.1",
          "protein_id": "ENSP00000612436.1",
          "transcript_support_level": null,
          "aa_start": 609,
          "aa_end": null,
          "aa_length": 633,
          "cds_start": 1825,
          "cds_end": null,
          "cds_length": 1902,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942377.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1819G>A",
          "hgvs_p": "p.Glu607Lys",
          "transcript": "ENST00000942380.1",
          "protein_id": "ENSP00000612439.1",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 631,
          "cds_start": 1819,
          "cds_end": null,
          "cds_length": 1896,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942380.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1801G>A",
          "hgvs_p": "p.Glu601Lys",
          "transcript": "ENST00000891177.1",
          "protein_id": "ENSP00000561236.1",
          "transcript_support_level": null,
          "aa_start": 601,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1801,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891177.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1795G>A",
          "hgvs_p": "p.Glu599Lys",
          "transcript": "NM_001324132.2",
          "protein_id": "NP_001311061.1",
          "transcript_support_level": null,
          "aa_start": 599,
          "aa_end": null,
          "aa_length": 623,
          "cds_start": 1795,
          "cds_end": null,
          "cds_length": 1872,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001324132.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1750G>A",
          "hgvs_p": "p.Glu584Lys",
          "transcript": "ENST00000891175.1",
          "protein_id": "ENSP00000561234.1",
          "transcript_support_level": null,
          "aa_start": 584,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1750,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891175.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "XPNPEP1",
          "gene_hgnc_id": 12822,
          "hgvs_c": "c.1684G>A",
          "hgvs_p": "p.Glu562Lys",
          "transcript": "ENST00000942376.1",
          "protein_id": "ENSP00000612435.1",
          "transcript_support_level": null,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 586,
          "cds_start": 1684,
          "cds_end": null,
          "cds_length": 1761,
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      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  "message": null
}