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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: 6-22191463-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=22191463&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 22191463,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000444265.6",
      "consequences": [
        {
          "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": 11,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.1062-104G>C",
          "hgvs_p": null,
          "transcript": "ENST00000444265.6",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 1497,
          "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": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.199+44393G>C",
          "hgvs_p": null,
          "transcript": "ENST00000561912.3",
          "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": 1484,
          "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": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.89-22844G>C",
          "hgvs_p": null,
          "transcript": "ENST00000567753.2",
          "protein_id": null,
          "transcript_support_level": 6,
          "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": 2162,
          "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.1033-104G>C",
          "hgvs_p": null,
          "transcript": "ENST00000606197.2",
          "protein_id": null,
          "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": 4297,
          "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": 12,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.1457-104G>C",
          "hgvs_p": null,
          "transcript": "ENST00000606851.5",
          "protein_id": null,
          "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": 1889,
          "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": 12,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.1204-104G>C",
          "hgvs_p": null,
          "transcript": "ENST00000607048.5",
          "protein_id": null,
          "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": 1634,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.310-30130G>C",
          "hgvs_p": null,
          "transcript": "ENST00000636388.1",
          "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": 1174,
          "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": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.1395-104G>C",
          "hgvs_p": null,
          "transcript": "ENST00000650782.1",
          "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,
          "cdna_end": null,
          "cdna_length": 1676,
          "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": 7,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.795-104G>C",
          "hgvs_p": null,
          "transcript": "ENST00000651007.1",
          "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,
          "cdna_end": null,
          "cdna_length": 1967,
          "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": 7,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.1030-104G>C",
          "hgvs_p": null,
          "transcript": "ENST00000651125.1",
          "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,
          "cdna_end": null,
          "cdna_length": 1487,
          "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": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.853-104G>C",
          "hgvs_p": null,
          "transcript": "ENST00000651620.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1310,
          "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": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.1051-104G>C",
          "hgvs_p": null,
          "transcript": "ENST00000651751.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3629,
          "mane_select": null,
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          "feature": null
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        {
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          "canonical": false,
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          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
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          "hgvs_c": "n.1076-104G>C",
          "hgvs_p": null,
          "transcript": "ENST00000651758.1",
          "protein_id": null,
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          "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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          "strand": true,
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          ],
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          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
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          "hgvs_c": "n.93-104G>C",
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        {
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          "canonical": false,
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          "strand": true,
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          ],
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          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
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          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.523-104G>C",
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          "transcript": "ENST00000652717.1",
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          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
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        {
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          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.1062-104G>C",
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          "transcript": "ENST00000653161.1",
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        {
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.867-22844G>C",
          "hgvs_p": null,
          "transcript": "ENST00000653246.1",
          "protein_id": null,
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          "gene_symbol": "CASC15",
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          "hgvs_c": "n.366-30130G>C",
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          "hgvs_c": "n.1159-104G>C",
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          ],
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          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "CASC15",
          "gene_hgnc_id": 28245,
          "hgvs_c": "n.1301+17401G>C",
          "hgvs_p": null,
          "transcript": "ENST00000654774.1",
          "protein_id": null,
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          "aa_start": null,
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          "cdna_length": 1499,
          "mane_select": null,
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        {
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          ],
          "exon_rank": null,
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          "exon_count": 8,
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          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000444265.6",
          "gene_symbol": "CASC15",
          "hgnc_id": 28245,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.1062-104G>C",
          "hgvs_p": null
        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000823290.1",
          "gene_symbol": "NBAT1",
          "hgnc_id": 49075,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.68+30982C>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
}