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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: 10-18521745-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=18521745&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 18521745,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_201596.3",
      "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": 14,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.944+2777G>C",
          "hgvs_p": null,
          "transcript": "NM_201596.3",
          "protein_id": "NP_963890.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 660,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1983,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000324631.13",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_201596.3"
        },
        {
          "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": 14,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.944+2777G>C",
          "hgvs_p": null,
          "transcript": "ENST00000324631.13",
          "protein_id": "ENSP00000320025.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 660,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1983,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_201596.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000324631.13"
        },
        {
          "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": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.782+2777G>C",
          "hgvs_p": null,
          "transcript": "NM_201590.3",
          "protein_id": "NP_963884.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "ENST00000377329.10",
          "biotype": "protein_coding",
          "feature": "NM_201590.3"
        },
        {
          "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": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.782+2777G>C",
          "hgvs_p": null,
          "transcript": "ENST00000377329.10",
          "protein_id": "ENSP00000366546.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "NM_201590.3",
          "biotype": "protein_coding",
          "feature": "ENST00000377329.10"
        },
        {
          "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": 14,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.872+2777G>C",
          "hgvs_p": null,
          "transcript": "ENST00000352115.10",
          "protein_id": "ENSP00000344474.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 636,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1911,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000352115.10"
        },
        {
          "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": 14,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.860+2777G>C",
          "hgvs_p": null,
          "transcript": "ENST00000282343.13",
          "protein_id": "ENSP00000282343.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 632,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1899,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000282343.13"
        },
        {
          "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": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.800+2777G>C",
          "hgvs_p": null,
          "transcript": "ENST00000377315.6",
          "protein_id": "ENSP00000366532.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000377315.6"
        },
        {
          "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": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.779+2777G>C",
          "hgvs_p": null,
          "transcript": "ENST00000396576.6",
          "protein_id": "ENSP00000379821.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396576.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.665+2777G>C",
          "hgvs_p": null,
          "transcript": "ENST00000377319.9",
          "protein_id": "ENSP00000366536.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 567,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1704,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000377319.9"
        },
        {
          "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": 12,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.665+2777G>C",
          "hgvs_p": null,
          "transcript": "ENST00000377331.8",
          "protein_id": "ENSP00000366548.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 528,
          "cds_start": null,
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          "cds_length": 1589,
          "cdna_start": null,
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        },
        {
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          "protein_coding": true,
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          "consequences": [
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          "exon_count": 7,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.457-14356G>C",
          "hgvs_p": null,
          "transcript": "ENST00000377328.5",
          "protein_id": "ENSP00000366545.1",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": 410,
          "cds_start": null,
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          "cds_length": 1233,
          "cdna_start": null,
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          "mane_select": null,
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          "feature": "ENST00000377328.5"
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        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_count": 5,
          "intron_rank": 4,
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          "gene_symbol": "CACNB2-AS1",
          "gene_hgnc_id": 58168,
          "hgvs_c": "n.483-8085C>G",
          "hgvs_p": null,
          "transcript": "ENST00000425669.1",
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          "cds_start": null,
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        },
        {
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          "gene_symbol": "CACNB2",
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        {
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          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.860+2777G>C",
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          "transcript": "NM_201571.4",
          "protein_id": "NP_963865.2",
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        {
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        {
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          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
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        {
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          "gene_symbol": "CACNB2",
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        },
        {
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          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "CACNB2",
          "gene_hgnc_id": 1402,
          "hgvs_c": "c.764+2777G>C",
          "hgvs_p": null,
          "transcript": "ENST00000652391.1",
          "protein_id": "ENSP00000498938.1",
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        {
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      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_201596.3",
          "gene_symbol": "CACNB2",
          "hgnc_id": 1402,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD,Unknown",
          "hgvs_c": "c.944+2777G>C",
          "hgvs_p": null
        },
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "XR_007062075.1",
          "gene_symbol": "CACNB2-AS1",
          "hgnc_id": 58168,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.5441C>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}