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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: 17-8228329-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8228329&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 8228329,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000651323.1",
      "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": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "c.3515-10C>G",
          "hgvs_p": null,
          "transcript": "NM_025099.6",
          "protein_id": "NP_079375.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1217,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3654,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7039,
          "mane_select": "ENST00000651323.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "c.3515-10C>G",
          "hgvs_p": null,
          "transcript": "ENST00000651323.1",
          "protein_id": "ENSP00000498499.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1217,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3654,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7039,
          "mane_select": "NM_025099.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "c.3284-10C>G",
          "hgvs_p": null,
          "transcript": "NM_001411067.1",
          "protein_id": "NP_001397996.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1140,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3423,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6808,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "c.3284-10C>G",
          "hgvs_p": null,
          "transcript": "ENST00000581729.2",
          "protein_id": "ENSP00000462720.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1140,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3423,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3779,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "c.3251-10C>G",
          "hgvs_p": null,
          "transcript": "ENST00000580299.2",
          "protein_id": "ENSP00000462607.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1129,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3390,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3766,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 20,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "c.2387-10C>G",
          "hgvs_p": null,
          "transcript": "ENST00000699849.1",
          "protein_id": "ENSP00000514647.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 841,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2526,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4555,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*249-10C>G",
          "hgvs_p": null,
          "transcript": "ENST00000449476.7",
          "protein_id": "ENSP00000396018.2",
          "transcript_support_level": 2,
          "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": 4795,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.3504-10C>G",
          "hgvs_p": null,
          "transcript": "ENST00000581671.2",
          "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,
          "cdna_end": null,
          "cdna_length": 3887,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*2222-10C>G",
          "hgvs_p": null,
          "transcript": "ENST00000643543.1",
          "protein_id": "ENSP00000494323.1",
          "transcript_support_level": null,
          "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": 4859,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.3447-10C>G",
          "hgvs_p": null,
          "transcript": "ENST00000699850.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4876,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 20,
          "intron_rank": 19,
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          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.4401-10C>G",
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          "transcript": "ENST00000699851.1",
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*2028-10C>G",
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          "transcript": "ENST00000699852.1",
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          "strand": false,
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          "exon_count": 22,
          "intron_rank": 21,
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          "gene_symbol": "CTC1",
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          "hgvs_c": "n.*100-10C>G",
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        {
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          ],
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          "gene_symbol": "CTC1",
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          "hgvs_c": "n.4074-10C>G",
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          "transcript": "ENST00000699854.1",
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          "mane_select": null,
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        {
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          "gene_symbol": "CTC1",
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          "gene_symbol": "CTC1",
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        {
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          "exon_count": 21,
          "intron_rank": 20,
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          "gene_symbol": "CTC1",
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          "hgvs_c": "n.4094-10C>G",
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          "transcript": "ENST00000699857.1",
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          "exon_count": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.*2799-10C>G",
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          "gene_symbol": "CTC1",
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        {
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          "exon_count": 20,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "CTC1",
          "gene_hgnc_id": 26169,
          "hgvs_c": "n.3978-10C>G",
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          "transcript": "ENST00000699861.1",
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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
}