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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: 15-29726423-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=29726423&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 29726423,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000614355.5",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.2368A>T",
          "hgvs_p": "p.Ile790Phe",
          "transcript": "NM_001330239.4",
          "protein_id": "NP_001317168.1",
          "transcript_support_level": null,
          "aa_start": 790,
          "aa_end": null,
          "aa_length": 1768,
          "cds_start": 2368,
          "cds_end": null,
          "cds_length": 5307,
          "cdna_start": 2808,
          "cdna_end": null,
          "cdna_length": 7190,
          "mane_select": "ENST00000614355.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.2368A>T",
          "hgvs_p": "p.Ile790Phe",
          "transcript": "ENST00000614355.5",
          "protein_id": "ENSP00000483470.2",
          "transcript_support_level": 5,
          "aa_start": 790,
          "aa_end": null,
          "aa_length": 1768,
          "cds_start": 2368,
          "cds_end": null,
          "cds_length": 5307,
          "cdna_start": 2808,
          "cdna_end": null,
          "cdna_length": 7190,
          "mane_select": "NM_001330239.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.2368A>T",
          "hgvs_p": "p.Ile790Phe",
          "transcript": "ENST00000346128.10",
          "protein_id": "ENSP00000281537.7",
          "transcript_support_level": 1,
          "aa_start": 790,
          "aa_end": null,
          "aa_length": 1748,
          "cds_start": 2368,
          "cds_end": null,
          "cds_length": 5247,
          "cdna_start": 2843,
          "cdna_end": null,
          "cdna_length": 7950,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.2380A>T",
          "hgvs_p": "p.Ile794Phe",
          "transcript": "ENST00000400011.6",
          "protein_id": "ENSP00000382890.2",
          "transcript_support_level": 1,
          "aa_start": 794,
          "aa_end": null,
          "aa_length": 1692,
          "cds_start": 2380,
          "cds_end": null,
          "cds_length": 5079,
          "cdna_start": 2622,
          "cdna_end": null,
          "cdna_length": 6764,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.2647A>T",
          "hgvs_p": "p.Ile883Phe",
          "transcript": "NM_001301025.3",
          "protein_id": "NP_001287954.2",
          "transcript_support_level": null,
          "aa_start": 883,
          "aa_end": null,
          "aa_length": 1861,
          "cds_start": 2647,
          "cds_end": null,
          "cds_length": 5586,
          "cdna_start": 2857,
          "cdna_end": null,
          "cdna_length": 8024,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.2647A>T",
          "hgvs_p": "p.Ile883Phe",
          "transcript": "ENST00000356107.11",
          "protein_id": "ENSP00000348416.7",
          "transcript_support_level": 5,
          "aa_start": 883,
          "aa_end": null,
          "aa_length": 1861,
          "cds_start": 2647,
          "cds_end": null,
          "cds_length": 5586,
          "cdna_start": 2723,
          "cdna_end": null,
          "cdna_length": 7022,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.2647A>T",
          "hgvs_p": "p.Ile883Phe",
          "transcript": "NM_001355012.2",
          "protein_id": "NP_001341941.1",
          "transcript_support_level": null,
          "aa_start": 883,
          "aa_end": null,
          "aa_length": 1841,
          "cds_start": 2647,
          "cds_end": null,
          "cds_length": 5526,
          "cdna_start": 2857,
          "cdna_end": null,
          "cdna_length": 7964,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.2380A>T",
          "hgvs_p": "p.Ile794Phe",
          "transcript": "NM_001355013.1",
          "protein_id": "NP_001341942.1",
          "transcript_support_level": null,
          "aa_start": 794,
          "aa_end": null,
          "aa_length": 1759,
          "cds_start": 2380,
          "cds_end": null,
          "cds_length": 5280,
          "cdna_start": 2489,
          "cdna_end": null,
          "cdna_length": 7617,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
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          "exon_count": 28,
          "intron_rank": null,
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          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.2368A>T",
          "hgvs_p": "p.Ile790Phe",
          "transcript": "NM_001355014.2",
          "protein_id": "NP_001341943.1",
          "transcript_support_level": null,
          "aa_start": 790,
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          "cds_start": 2368,
          "cds_end": null,
          "cds_length": 5268,
          "cdna_start": 2808,
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          "mane_select": null,
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        },
        {
          "aa_ref": "I",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
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          "gene_symbol": "TJP1",
          "gene_hgnc_id": 11827,
          "hgvs_c": "c.2368A>T",
          "hgvs_p": "p.Ile790Phe",
          "transcript": "NM_003257.5",
          "protein_id": "NP_003248.3",
          "transcript_support_level": null,
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          "cds_start": 2368,
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        {
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          "gene_symbol": "TJP1",
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          "hgvs_c": "c.2380A>T",
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        {
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          "hgvs_c": "c.2368A>T",
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          "gene_symbol": "TJP1",
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        {
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