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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: 10-5926107-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=5926107&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 5926107,
      "ref": "A",
      "alt": "C",
      "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": 18,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.2722+615A>C",
          "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": 18,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.2722+615A>C",
          "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": 19,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.2875+615A>C",
          "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": 19,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.2875+615A>C",
          "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": 19,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.2551+615A>C",
          "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": 19,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.2551+615A>C",
          "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": 19,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.2500+615A>C",
          "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": 9,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "n.577+615A>C",
          "hgvs_p": null,
          "transcript": "ENST00000461504.5",
          "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": 835,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "n.82+615A>C",
          "hgvs_p": null,
          "transcript": "ENST00000470353.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 681,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "n.82+615A>C",
          "hgvs_p": null,
          "transcript": "ENST00000479433.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 527,
          "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,
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          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "n.450+615A>C",
          "hgvs_p": null,
          "transcript": "ENST00000485290.1",
          "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": 534,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "n.229+615A>C",
          "hgvs_p": null,
          "transcript": "ENST00000496013.5",
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          "cds_start": -4,
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": 20,
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          "gene_symbol": "FBH1",
          "gene_hgnc_id": 13620,
          "hgvs_c": "c.3184+615A>C",
          "hgvs_p": null,
          "transcript": "XM_047425892.1",
          "protein_id": "XP_047281848.1",
          "transcript_support_level": null,
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        {
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          "gene_symbol": "FBH1",
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          "hgvs_c": "c.3133+615A>C",
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          "transcript": "XM_047425893.1",
          "protein_id": "XP_047281849.1",
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        {
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          ],
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          "gene_symbol": "FBH1",
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          "hgvs_c": "c.2926+615A>C",
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          "gene_symbol": "FBH1",
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          "hgvs_c": "c.2773+615A>C",
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          "transcript": "XM_017016844.3",
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          "intron_rank": 20,
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          "gene_symbol": "FBH1",
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          "transcript": "XM_047425894.1",
          "protein_id": "XP_047281850.1",
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        {
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          ],
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          "intron_rank": 21,
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          "gene_symbol": "FBH1",
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          "hgvs_c": "c.2773+615A>C",
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          "hgvs_c": "c.2770+615A>C",
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          "gene_symbol": "FBH1",
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        },
        {
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          "strand": true,
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          ],
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          "exon_count": 23,
          "intron_rank": 20,
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          "gene_symbol": "FBH1",
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          "hgvs_c": "c.2722+615A>C",
          "hgvs_p": null,
          "transcript": "XM_047425896.1",
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      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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}