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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: 6-32041574-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32041574&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 32041574,
      "ref": "C",
      "alt": "G",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_000500.9",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP21A2",
          "gene_hgnc_id": 2600,
          "hgvs_c": "c.*440C>G",
          "hgvs_p": null,
          "transcript": "NM_000500.9",
          "protein_id": "NP_000491.4",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000644719.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000500.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP21A2",
          "gene_hgnc_id": 2600,
          "hgvs_c": "c.*440C>G",
          "hgvs_p": null,
          "transcript": "ENST00000644719.2",
          "protein_id": "ENSP00000496625.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000500.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000644719.2"
        },
        {
          "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": 44,
          "intron_rank": 43,
          "intron_rank_end": null,
          "gene_symbol": "TNXB",
          "gene_hgnc_id": 11976,
          "hgvs_c": "c.12634-124G>C",
          "hgvs_p": null,
          "transcript": "NM_001365276.2",
          "protein_id": "NP_001352205.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 4244,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 12735,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000644971.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001365276.2"
        },
        {
          "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": 44,
          "intron_rank": 43,
          "intron_rank_end": null,
          "gene_symbol": "TNXB",
          "gene_hgnc_id": 11976,
          "hgvs_c": "c.12634-124G>C",
          "hgvs_p": null,
          "transcript": "ENST00000644971.2",
          "protein_id": "ENSP00000496448.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 4244,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 12735,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001365276.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000644971.2"
        },
        {
          "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": 13,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "TNXB",
          "gene_hgnc_id": 11976,
          "hgvs_c": "c.1921-124G>C",
          "hgvs_p": null,
          "transcript": "ENST00000451343.4",
          "protein_id": "ENSP00000407685.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000451343.4"
        },
        {
          "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": 14,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "TNXB",
          "gene_hgnc_id": 11976,
          "hgvs_c": "n.2461-124G>C",
          "hgvs_p": null,
          "transcript": "ENST00000490077.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000490077.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP21A2",
          "gene_hgnc_id": 2600,
          "hgvs_c": "c.*440C>G",
          "hgvs_p": null,
          "transcript": "ENST00000960600.1",
          "protein_id": "ENSP00000630659.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960600.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP21A2",
          "gene_hgnc_id": 2600,
          "hgvs_c": "c.*440C>G",
          "hgvs_p": null,
          "transcript": "ENST00000960597.1",
          "protein_id": "ENSP00000630656.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 498,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1497,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960597.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP21A2",
          "gene_hgnc_id": 2600,
          "hgvs_c": "c.*440C>G",
          "hgvs_p": null,
          "transcript": "ENST00000960601.1",
          "protein_id": "ENSP00000630660.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960601.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP21A2",
          "gene_hgnc_id": 2600,
          "hgvs_c": "c.*440C>G",
          "hgvs_p": null,
          "transcript": "ENST00000960599.1",
          "protein_id": "ENSP00000630658.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 494,
          "cds_start": null,
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          "cds_length": 1485,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
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          ],
          "exon_rank": 10,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "CYP21A2",
          "gene_hgnc_id": 2600,
          "hgvs_c": "c.*440C>G",
          "hgvs_p": null,
          "transcript": "ENST00000960595.1",
          "protein_id": "ENSP00000630654.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 10,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "CYP21A2",
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          "hgvs_c": "c.*440C>G",
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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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          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "CYP21A2",
          "gene_hgnc_id": 2600,
          "hgvs_c": "c.*440C>G",
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          "transcript": "ENST00000960598.1",
          "protein_id": "ENSP00000630657.1",
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        {
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          ],
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          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP21A2",
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          "hgvs_c": "c.*440C>G",
          "hgvs_p": null,
          "transcript": "ENST00000960604.1",
          "protein_id": "ENSP00000630663.1",
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        {
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          ],
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "CYP21A2",
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          "hgvs_c": "c.*440C>G",
          "hgvs_p": null,
          "transcript": "NM_001128590.4",
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        {
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          ],
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          "gene_symbol": "CYP21A2",
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          "hgvs_c": "c.*440C>G",
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          "transcript": "ENST00000435122.3",
          "protein_id": "ENSP00000415043.2",
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          ],
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        {
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          ],
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          "gene_symbol": "CYP21A2",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP21A2",
          "gene_hgnc_id": 2600,
          "hgvs_c": "c.*440C>G",
          "hgvs_p": null,
          "transcript": "ENST00000960606.1",
          "protein_id": "ENSP00000630665.1",
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          "cds_length": 1311,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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      "splice_source_selected": "max_spliceai",
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      "acmg_classification": "Likely_benign",
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          "verdict": "Likely_benign",
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        {
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          "verdict": "Likely_benign",
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          "inheritance_mode": "AR,AD",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}