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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: 10-5906675-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=5906675&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 5906675,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000362091.9",
      "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": 21,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.753+43C>A",
          "hgvs_p": null,
          "transcript": "NM_178150.3",
          "protein_id": "NP_835363.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1043,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3132,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3548,
          "mane_select": "ENST00000362091.9",
          "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": 21,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.753+43C>A",
          "hgvs_p": null,
          "transcript": "ENST00000362091.9",
          "protein_id": "ENSP00000355415.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1043,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3132,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3548,
          "mane_select": "NM_178150.3",
          "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": 22,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.906+43C>A",
          "hgvs_p": null,
          "transcript": "ENST00000379999.6",
          "protein_id": "ENSP00000369335.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1094,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3285,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3702,
          "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": 22,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.906+43C>A",
          "hgvs_p": null,
          "transcript": "NM_032807.5",
          "protein_id": "NP_116196.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1094,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3285,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3702,
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.531+43C>A",
          "hgvs_p": null,
          "transcript": "NM_001258452.2",
          "protein_id": "NP_001245381.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 986,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2961,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3665,
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.531+43C>A",
          "hgvs_p": null,
          "transcript": "ENST00000397269.7",
          "protein_id": "ENSP00000380439.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 986,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2961,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3640,
          "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": 22,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.531+43C>A",
          "hgvs_p": null,
          "transcript": "NM_001258453.2",
          "protein_id": "NP_001245382.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 969,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2910,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3646,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "n.676+43C>A",
          "hgvs_p": null,
          "transcript": "ENST00000469009.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 886,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "n.695+43C>A",
          "hgvs_p": null,
          "transcript": "ENST00000470089.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 979,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "n.127+43C>A",
          "hgvs_p": null,
          "transcript": "ENST00000494526.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 578,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 23,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.1164+43C>A",
          "hgvs_p": null,
          "transcript": "XM_047425892.1",
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          "aa_length": 1197,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "exon_rank": null,
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          "intron_rank": 3,
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          "gene_symbol": "FBH1",
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          "hgvs_c": "c.1164+43C>A",
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          "canonical": false,
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          "gene_symbol": "FBH1",
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          "hgvs_c": "c.906+43C>A",
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        {
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          "gene_symbol": "FBH1",
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          "hgvs_c": "c.753+43C>A",
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          "transcript": "XM_017016844.3",
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          "gene_symbol": "FBH1",
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          "hgvs_c": "c.750+43C>A",
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          "gene_symbol": "FBH1",
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          "intron_rank": 3,
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          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.531+43C>A",
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}