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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: 13-98923314-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=98923314&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 98923314,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000682017.1",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK9",
          "gene_hgnc_id": 14132,
          "hgvs_c": "c.474C>T",
          "hgvs_p": "p.Val158Val",
          "transcript": "NM_001366683.2",
          "protein_id": "NP_001353612.1",
          "transcript_support_level": null,
          "aa_start": 158,
          "aa_end": null,
          "aa_length": 2092,
          "cds_start": 474,
          "cds_end": null,
          "cds_length": 6279,
          "cdna_start": 629,
          "cdna_end": null,
          "cdna_length": 7631,
          "mane_select": "ENST00000682017.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK9",
          "gene_hgnc_id": 14132,
          "hgvs_c": "c.474C>T",
          "hgvs_p": "p.Val158Val",
          "transcript": "ENST00000682017.1",
          "protein_id": "ENSP00000507034.1",
          "transcript_support_level": null,
          "aa_start": 158,
          "aa_end": null,
          "aa_length": 2092,
          "cds_start": 474,
          "cds_end": null,
          "cds_length": 6279,
          "cdna_start": 629,
          "cdna_end": null,
          "cdna_length": 7631,
          "mane_select": "NM_001366683.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK9",
          "gene_hgnc_id": 14132,
          "hgvs_c": "c.477C>T",
          "hgvs_p": "p.Val159Val",
          "transcript": "ENST00000427887.2",
          "protein_id": "ENSP00000413781.2",
          "transcript_support_level": 1,
          "aa_start": 159,
          "aa_end": null,
          "aa_length": 1254,
          "cds_start": 477,
          "cds_end": null,
          "cds_length": 3765,
          "cdna_start": 751,
          "cdna_end": null,
          "cdna_length": 4176,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 55,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK9",
          "gene_hgnc_id": 14132,
          "hgvs_c": "c.474C>T",
          "hgvs_p": "p.Val158Val",
          "transcript": "NM_001366681.2",
          "protein_id": "NP_001353610.1",
          "transcript_support_level": null,
          "aa_start": 158,
          "aa_end": null,
          "aa_length": 2127,
          "cds_start": 474,
          "cds_end": null,
          "cds_length": 6384,
          "cdna_start": 629,
          "cdna_end": null,
          "cdna_length": 7736,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 54,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK9",
          "gene_hgnc_id": 14132,
          "hgvs_c": "c.474C>T",
          "hgvs_p": "p.Val158Val",
          "transcript": "NM_001366684.2",
          "protein_id": "NP_001353613.1",
          "transcript_support_level": null,
          "aa_start": 158,
          "aa_end": null,
          "aa_length": 2115,
          "cds_start": 474,
          "cds_end": null,
          "cds_length": 6348,
          "cdna_start": 629,
          "cdna_end": null,
          "cdna_length": 7700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 54,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK9",
          "gene_hgnc_id": 14132,
          "hgvs_c": "c.474C>T",
          "hgvs_p": "p.Val158Val",
          "transcript": "NM_001366682.2",
          "protein_id": "NP_001353611.1",
          "transcript_support_level": null,
          "aa_start": 158,
          "aa_end": null,
          "aa_length": 2104,
          "cds_start": 474,
          "cds_end": null,
          "cds_length": 6315,
          "cdna_start": 629,
          "cdna_end": null,
          "cdna_length": 7667,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 54,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK9",
          "gene_hgnc_id": 14132,
          "hgvs_c": "c.510C>T",
          "hgvs_p": "p.Val170Val",
          "transcript": "NM_001366677.2",
          "protein_id": "NP_001353606.1",
          "transcript_support_level": null,
          "aa_start": 170,
          "aa_end": null,
          "aa_length": 2085,
          "cds_start": 510,
          "cds_end": null,
          "cds_length": 6258,
          "cdna_start": 687,
          "cdna_end": null,
          "cdna_length": 7632,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK9",
          "gene_hgnc_id": 14132,
          "hgvs_c": "c.510C>T",
          "hgvs_p": "p.Val170Val",
          "transcript": "ENST00000448493.7",
          "protein_id": "ENSP00000401958.4",
          "transcript_support_level": 5,
          "aa_start": 170,
          "aa_end": null,
          "aa_length": 2081,
          "cds_start": 510,
          "cds_end": null,
          "cds_length": 6246,
          "cdna_start": 954,
          "cdna_end": null,
          "cdna_length": 7887,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 57,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK9",
          "gene_hgnc_id": 14132,
          "hgvs_c": "c.510C>T",
          "hgvs_p": "p.Val170Val",
          "transcript": "NM_001366678.2",
          "protein_id": "NP_001353607.1",
          "transcript_support_level": null,
          "aa_start": 170,
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          "aa_length": 2080,
          "cds_start": 510,
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          "cdna_start": 687,
          "cdna_end": null,
          "cdna_length": 7739,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 56,
          "intron_rank": null,
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          "gene_symbol": "DOCK9",
          "gene_hgnc_id": 14132,
          "hgvs_c": "c.510C>T",
          "hgvs_p": "p.Val170Val",
          "transcript": "ENST00000703211.1",
          "protein_id": "ENSP00000515238.1",
          "transcript_support_level": null,
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          "cds_start": 510,
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          "cdna_start": 954,
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          "mane_select": null,
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        {
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          "intron_rank": null,
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          "hgvs_p": "p.Val158Val",
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          "protein_id": "NP_001353608.1",
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          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 5,
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          "intron_rank": null,
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          "gene_symbol": "DOCK9",
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        {
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        {
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        {
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        {
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          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "DOCK9",
          "gene_hgnc_id": 14132,
          "hgvs_c": "c.261C>T",
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      "clinvar_classification": "",
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}