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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: 4-38132364-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=38132364&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 38132364,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000698857.1",
      "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": 22,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "c.3415-720T>G",
          "hgvs_p": null,
          "transcript": "NM_001396959.1",
          "protein_id": "NP_001383888.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1262,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3789,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5985,
          "mane_select": "ENST00000698857.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 22,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "c.3415-720T>G",
          "hgvs_p": null,
          "transcript": "ENST00000698857.1",
          "protein_id": "ENSP00000513987.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1262,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3789,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5985,
          "mane_select": "NM_001396959.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 20,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "c.3133-720T>G",
          "hgvs_p": null,
          "transcript": "ENST00000261439.9",
          "protein_id": "ENSP00000261439.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5703,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 20,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "c.3133-720T>G",
          "hgvs_p": null,
          "transcript": "NM_015173.4",
          "protein_id": "NP_055988.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5703,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "c.3106-720T>G",
          "hgvs_p": null,
          "transcript": "NM_001253912.2",
          "protein_id": "NP_001240841.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1159,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3480,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5676,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "c.3106-720T>G",
          "hgvs_p": null,
          "transcript": "ENST00000508802.5",
          "protein_id": "ENSP00000423651.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1159,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3480,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4119,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "c.2194-720T>G",
          "hgvs_p": null,
          "transcript": "ENST00000510573.6",
          "protein_id": "ENSP00000421641.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 855,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2568,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2977,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "c.424-720T>G",
          "hgvs_p": null,
          "transcript": "NM_001253913.2",
          "protein_id": "NP_001240842.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 265,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 798,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3342,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "c.424-720T>G",
          "hgvs_p": null,
          "transcript": "NM_001253914.2",
          "protein_id": "NP_001240843.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 265,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 798,
          "cdna_start": null,
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          "cdna_length": 2988,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "c.169-720T>G",
          "hgvs_p": null,
          "transcript": "NM_001253915.2",
          "protein_id": "NP_001240844.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 180,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 543,
          "cdna_start": null,
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          "cdna_length": 2538,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "n.1130-720T>G",
          "hgvs_p": null,
          "transcript": "ENST00000401554.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1713,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
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          "hgvs_c": "n.326-720T>G",
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          "transcript": "ENST00000406664.5",
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          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": true,
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          "exon_count": 6,
          "intron_rank": 4,
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          "gene_symbol": "TBC1D1",
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          "hgvs_c": "n.776-720T>G",
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          "transcript": "ENST00000407365.5",
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          "transcript_support_level": 2,
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        {
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          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "n.3362-720T>G",
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          "transcript": "ENST00000698858.1",
          "protein_id": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "TBC1D1",
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        {
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          "transcript": "XM_011513660.4",
          "protein_id": "XP_011511962.1",
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        {
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          "exon_count": 23,
          "intron_rank": 21,
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          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "c.3454-720T>G",
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          "transcript": "XM_005262646.4",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
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          "gene_symbol": "TBC1D1",
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        {
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          "gene_symbol": "TBC1D1",
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          "hgvs_c": "c.3355-720T>G",
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        {
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          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
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          "protein_id": "XP_011511966.1",
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        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "exon_count": 22,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D1",
          "gene_hgnc_id": 11578,
          "hgvs_c": "c.3334-720T>G",
          "hgvs_p": null,
          "transcript": "XM_047449888.1",
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