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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: 4-1722852-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1722852&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 1722852,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000313288.9",
      "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TACC3",
          "gene_hgnc_id": 11524,
          "hgvs_c": "c.-1-569C>T",
          "hgvs_p": null,
          "transcript": "NM_006342.3",
          "protein_id": "NP_006333.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2799,
          "mane_select": "ENST00000313288.9",
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TACC3",
          "gene_hgnc_id": 11524,
          "hgvs_c": "c.-1-569C>T",
          "hgvs_p": null,
          "transcript": "ENST00000313288.9",
          "protein_id": "ENSP00000326550.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2799,
          "mane_select": "NM_006342.3",
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TACC3",
          "gene_hgnc_id": 11524,
          "hgvs_c": "c.-1-569C>T",
          "hgvs_p": null,
          "transcript": "NM_001441304.1",
          "protein_id": "NP_001428233.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 849,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2550,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2832,
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TACC3",
          "gene_hgnc_id": 11524,
          "hgvs_c": "c.-1-569C>T",
          "hgvs_p": null,
          "transcript": "NM_001441305.1",
          "protein_id": "NP_001428234.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 842,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2529,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2811,
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TACC3",
          "gene_hgnc_id": 11524,
          "hgvs_c": "c.-1-569C>T",
          "hgvs_p": null,
          "transcript": "NM_001441306.1",
          "protein_id": "NP_001428235.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 840,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2523,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2805,
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TACC3",
          "gene_hgnc_id": 11524,
          "hgvs_c": "c.-1-569C>T",
          "hgvs_p": null,
          "transcript": "NM_001441307.1",
          "protein_id": "NP_001428236.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 839,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2520,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2802,
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TACC3",
          "gene_hgnc_id": 11524,
          "hgvs_c": "c.-1-569C>T",
          "hgvs_p": null,
          "transcript": "NM_001441319.1",
          "protein_id": "NP_001428248.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3255,
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TACC3",
          "gene_hgnc_id": 11524,
          "hgvs_c": "c.-1-569C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651472.1",
          "protein_id": "ENSP00000498361.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2764,
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TACC3",
          "gene_hgnc_id": 11524,
          "hgvs_c": "c.-1-569C>T",
          "hgvs_p": null,
          "transcript": "NM_001441308.1",
          "protein_id": "NP_001428237.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 837,
          "cds_start": -4,
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          "cds_length": 2514,
          "cdna_start": null,
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          "cdna_length": 2796,
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TACC3",
          "gene_hgnc_id": 11524,
          "hgvs_c": "c.-1-569C>T",
          "hgvs_p": null,
          "transcript": "NM_001441309.1",
          "protein_id": "NP_001428238.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 837,
          "cds_start": -4,
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          "cds_length": 2514,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
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          "feature": null
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        {
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          "canonical": false,
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          "strand": true,
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          "exon_count": 16,
          "intron_rank": 1,
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          "gene_symbol": "TACC3",
          "gene_hgnc_id": 11524,
          "hgvs_c": "c.-1-569C>T",
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          "transcript": "NM_001441310.1",
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          "transcript_support_level": null,
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          "aa_length": 836,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          "exon_count": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TACC3",
          "gene_hgnc_id": 11524,
          "hgvs_c": "c.-1-569C>T",
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          "gene_symbol": "TACC3",
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          "hgvs_c": "c.-1-569C>T",
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          "gene_symbol": "TACC3",
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          "transcript": "NM_001441313.1",
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        {
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          "gene_symbol": "TACC3",
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          "hgvs_c": "c.-2+459C>T",
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          "gene_symbol": "TACC3",
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        {
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          "gene_symbol": "TACC3",
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          "hgvs_c": "c.-495-569C>T",
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        },
        {
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          "intron_rank": 1,
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          "gene_symbol": "TACC3",
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          "transcript": "NM_001410699.1",
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}