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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: 2-61530586-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=61530586&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 61530586,
      "ref": "G",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_003400.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "NM_003400.4",
          "protein_id": "NP_003391.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000401558.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003400.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000401558.7",
          "protein_id": "ENSP00000384863.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003400.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000401558.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000406957.5",
          "protein_id": "ENSP00000385559.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000406957.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000404992.6",
          "protein_id": "ENSP00000385942.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000404992.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000676553.1",
          "protein_id": "ENSP00000504247.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000676553.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000676667.1",
          "protein_id": "ENSP00000503809.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000676667.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000677150.1",
          "protein_id": "ENSP00000503167.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677150.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000677239.1",
          "protein_id": "ENSP00000504087.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677239.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000677417.1",
          "protein_id": "ENSP00000503572.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677417.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000677813.1",
          "protein_id": "ENSP00000504543.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000677813.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 26,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000677814.1",
          "protein_id": "ENSP00000504848.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1071,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677814.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 27,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000677928.1",
          "protein_id": "ENSP00000504198.1",
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          "aa_length": 1071,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "strand": false,
          "consequences": [
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          "intron_rank": 1,
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          "gene_symbol": "XPO1",
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          "hgvs_c": "c.126+3186C>A",
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          "protein_id": "ENSP00000503482.1",
          "transcript_support_level": null,
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000678182.1",
          "protein_id": "ENSP00000504594.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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        },
        {
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          "gene_symbol": "XPO1",
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        {
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          "exon_count": 26,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
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          "transcript": "ENST00000852809.1",
          "protein_id": "ENSP00000522868.1",
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          "gene_symbol": "XPO1",
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          "hgvs_c": "c.126+3186C>A",
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          "transcript": "ENST00000852810.1",
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        {
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        {
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          ],
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          "exon_count": 26,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "XPO1",
          "gene_hgnc_id": 12825,
          "hgvs_c": "c.126+3186C>A",
          "hgvs_p": null,
          "transcript": "ENST00000852816.1",
          "protein_id": "ENSP00000522875.1",
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          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000852816.1"
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}