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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: 13-31139080-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=31139080&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 31139080,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001286504.1",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.2008A>T",
          "hgvs_p": "p.Thr670Ser",
          "transcript": "NM_006644.4",
          "protein_id": "NP_006635.2",
          "transcript_support_level": null,
          "aa_start": 670,
          "aa_end": null,
          "aa_length": 858,
          "cds_start": 2008,
          "cds_end": null,
          "cds_length": 2577,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000320027.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006644.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.2008A>T",
          "hgvs_p": "p.Thr670Ser",
          "transcript": "ENST00000320027.10",
          "protein_id": "ENSP00000318687.5",
          "transcript_support_level": 1,
          "aa_start": 670,
          "aa_end": null,
          "aa_length": 858,
          "cds_start": 2008,
          "cds_end": null,
          "cds_length": 2577,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006644.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000320027.10"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.2014A>T",
          "hgvs_p": "p.Thr672Ser",
          "transcript": "ENST00000630972.2",
          "protein_id": "ENSP00000487365.1",
          "transcript_support_level": 1,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 860,
          "cds_start": 2014,
          "cds_end": null,
          "cds_length": 2583,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000630972.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.1876A>T",
          "hgvs_p": "p.Thr626Ser",
          "transcript": "ENST00000380405.7",
          "protein_id": "ENSP00000369768.4",
          "transcript_support_level": 1,
          "aa_start": 626,
          "aa_end": null,
          "aa_length": 814,
          "cds_start": 1876,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380405.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "n.*1536A>T",
          "hgvs_p": null,
          "transcript": "ENST00000602786.5",
          "protein_id": "ENSP00000473512.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000602786.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "n.*1536A>T",
          "hgvs_p": null,
          "transcript": "ENST00000602786.5",
          "protein_id": "ENSP00000473512.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000602786.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.2014A>T",
          "hgvs_p": "p.Thr672Ser",
          "transcript": "NM_001286504.1",
          "protein_id": "NP_001273433.1",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 860,
          "cds_start": 2014,
          "cds_end": null,
          "cds_length": 2583,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286504.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.2008A>T",
          "hgvs_p": "p.Thr670Ser",
          "transcript": "ENST00000853999.1",
          "protein_id": "ENSP00000524058.1",
          "transcript_support_level": null,
          "aa_start": 670,
          "aa_end": null,
          "aa_length": 858,
          "cds_start": 2008,
          "cds_end": null,
          "cds_length": 2577,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000853999.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.2008A>T",
          "hgvs_p": "p.Thr670Ser",
          "transcript": "ENST00000936549.1",
          "protein_id": "ENSP00000606608.1",
          "transcript_support_level": null,
          "aa_start": 670,
          "aa_end": null,
          "aa_length": 858,
          "cds_start": 2008,
          "cds_end": null,
          "cds_length": 2577,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936549.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.2008A>T",
          "hgvs_p": "p.Thr670Ser",
          "transcript": "NM_001349704.2",
          "protein_id": "NP_001336633.1",
          "transcript_support_level": null,
          "aa_start": 670,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": 2008,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349704.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.1933A>T",
          "hgvs_p": "p.Thr645Ser",
          "transcript": "ENST00000954004.1",
          "protein_id": "ENSP00000624063.1",
          "transcript_support_level": null,
          "aa_start": 645,
          "aa_end": null,
          "aa_length": 833,
          "cds_start": 1933,
          "cds_end": null,
          "cds_length": 2502,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954004.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.1885A>T",
          "hgvs_p": "p.Thr629Ser",
          "transcript": "ENST00000936550.1",
          "protein_id": "ENSP00000606609.1",
          "transcript_support_level": null,
          "aa_start": 629,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 1885,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936550.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.1876A>T",
          "hgvs_p": "p.Thr626Ser",
          "transcript": "NM_001286503.2",
          "protein_id": "NP_001273432.1",
          "transcript_support_level": null,
          "aa_start": 626,
          "aa_end": null,
          "aa_length": 814,
          "cds_start": 1876,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286503.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.1876A>T",
          "hgvs_p": "p.Thr626Ser",
          "transcript": "ENST00000954002.1",
          "protein_id": "ENSP00000624061.1",
          "transcript_support_level": null,
          "aa_start": 626,
          "aa_end": null,
          "aa_length": 814,
          "cds_start": 1876,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954002.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.1780A>T",
          "hgvs_p": "p.Thr594Ser",
          "transcript": "NM_001286505.1",
          "protein_id": "NP_001273434.1",
          "transcript_support_level": null,
          "aa_start": 594,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 1780,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286505.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.1780A>T",
          "hgvs_p": "p.Thr594Ser",
          "transcript": "ENST00000445273.6",
          "protein_id": "ENSP00000396090.3",
          "transcript_support_level": 2,
          "aa_start": 594,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 1780,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000445273.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.1774A>T",
          "hgvs_p": "p.Thr592Ser",
          "transcript": "ENST00000954003.1",
          "protein_id": "ENSP00000624062.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 1774,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954003.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.1753A>T",
          "hgvs_p": "p.Thr585Ser",
          "transcript": "ENST00000954005.1",
          "protein_id": "ENSP00000624064.1",
          "transcript_support_level": null,
          "aa_start": 585,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": 1753,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954005.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.1642A>T",
          "hgvs_p": "p.Thr548Ser",
          "transcript": "ENST00000954006.1",
          "protein_id": "ENSP00000624065.1",
          "transcript_support_level": null,
          "aa_start": 548,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 1642,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954006.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HSPH1",
          "gene_hgnc_id": 16969,
          "hgvs_c": "c.721A>T",
          "hgvs_p": "p.Thr241Ser",
          "transcript": "ENST00000936551.1",
          "protein_id": "ENSP00000606610.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 429,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 1290,
          "cdna_start": null,
          "cdna_end": null,
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}