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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: 5-179708814-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=179708814&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 179708814,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_001363993.1",
      "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": 15,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CANX",
          "gene_hgnc_id": 1473,
          "hgvs_c": "c.447-164C>A",
          "hgvs_p": null,
          "transcript": "NM_001746.4",
          "protein_id": "NP_001737.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 592,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1779,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000247461.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001746.4"
        },
        {
          "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": 15,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CANX",
          "gene_hgnc_id": 1473,
          "hgvs_c": "c.447-164C>A",
          "hgvs_p": null,
          "transcript": "ENST00000247461.9",
          "protein_id": "ENSP00000247461.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 592,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1779,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001746.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000247461.9"
        },
        {
          "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": 15,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CANX",
          "gene_hgnc_id": 1473,
          "hgvs_c": "c.447-164C>A",
          "hgvs_p": null,
          "transcript": "ENST00000452673.6",
          "protein_id": "ENSP00000391646.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 592,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1779,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000452673.6"
        },
        {
          "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": 16,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "CANX",
          "gene_hgnc_id": 1473,
          "hgvs_c": "c.609-164C>A",
          "hgvs_p": null,
          "transcript": "NM_001363993.1",
          "protein_id": "NP_001350922.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 646,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1941,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001363993.1"
        },
        {
          "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": 15,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CANX",
          "gene_hgnc_id": 1473,
          "hgvs_c": "c.552-164C>A",
          "hgvs_p": null,
          "transcript": "NM_001363994.1",
          "protein_id": "NP_001350923.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 627,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1884,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001363994.1"
        },
        {
          "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": 16,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CANX",
          "gene_hgnc_id": 1473,
          "hgvs_c": "c.447-164C>A",
          "hgvs_p": null,
          "transcript": "NM_001363995.1",
          "protein_id": "NP_001350924.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 626,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1881,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001363995.1"
        },
        {
          "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": 16,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CANX",
          "gene_hgnc_id": 1473,
          "hgvs_c": "c.447-164C>A",
          "hgvs_p": null,
          "transcript": "ENST00000680984.1",
          "protein_id": "ENSP00000506168.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 626,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1881,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000680984.1"
        },
        {
          "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": 16,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CANX",
          "gene_hgnc_id": 1473,
          "hgvs_c": "c.447-164C>A",
          "hgvs_p": null,
          "transcript": "ENST00000903546.1",
          "protein_id": "ENSP00000573605.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 626,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1881,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903546.1"
        },
        {
          "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": 17,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "CANX",
          "gene_hgnc_id": 1473,
          "hgvs_c": "c.447-164C>A",
          "hgvs_p": null,
          "transcript": "ENST00000938059.1",
          "protein_id": "ENSP00000608118.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 626,
          "cds_start": null,
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          "cds_length": 1881,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000938059.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "CANX",
          "gene_hgnc_id": 1473,
          "hgvs_c": "c.447-164C>A",
          "hgvs_p": null,
          "transcript": "ENST00000938069.1",
          "protein_id": "ENSP00000608128.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cds_length": 1881,
          "cdna_start": null,
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          "mane_select": null,
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        {
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          ],
          "exon_rank": null,
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          "gene_symbol": "CANX",
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          "hgvs_c": "c.447-164C>A",
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          "transcript": "ENST00000938071.1",
          "protein_id": "ENSP00000608130.1",
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "strand": true,
          "consequences": [
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          "gene_symbol": "CANX",
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          "cdna_start": null,
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        {
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          "hgvs_c": "c.447-164C>A",
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        {
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          "gene_symbol": "CANX",
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          "hgvs_c": "c.447-164C>A",
          "hgvs_p": null,
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        {
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        {
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          "gene_symbol": "CANX",
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          "hgvs_c": "c.447-164C>A",
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        {
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        {
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        {
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        {
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          "gene_symbol": "CANX",
          "gene_hgnc_id": 1473,
          "hgvs_c": "c.447-164C>A",
          "hgvs_p": null,
          "transcript": "ENST00000513246.6",
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          "biotype": "protein_coding",
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        },
        {
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      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001363993.1",
          "gene_symbol": "CANX",
          "hgnc_id": 1473,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.609-164C>A",
          "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
}