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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: 1-3068848-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3068848&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 3068848,
      "ref": "G",
      "alt": "A",
      "effect": "non_coding_transcript_exon_variant",
      "transcript": "ENST00000702683.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 1,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRDM16-DT",
          "gene_hgnc_id": 48664,
          "hgvs_c": "n.300C>T",
          "hgvs_p": null,
          "transcript": "ENST00000702683.2",
          "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": 676,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRDM16-DT",
          "gene_hgnc_id": 48664,
          "hgvs_c": "n.202C>T",
          "hgvs_p": null,
          "transcript": "ENST00000818119.1",
          "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": 396,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC124903827",
          "gene_hgnc_id": null,
          "hgvs_c": "c.*100C>T",
          "hgvs_p": null,
          "transcript": "XM_047436534.1",
          "protein_id": "XP_047292490.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10286,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC124903827",
          "gene_hgnc_id": null,
          "hgvs_c": "c.*100C>T",
          "hgvs_p": null,
          "transcript": "XM_047436535.1",
          "protein_id": "XP_047292491.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10778,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC124903827",
          "gene_hgnc_id": null,
          "hgvs_c": "c.*100C>T",
          "hgvs_p": null,
          "transcript": "XM_047436536.1",
          "protein_id": "XP_047292492.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10027,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC124903827",
          "gene_hgnc_id": null,
          "hgvs_c": "c.*100C>T",
          "hgvs_p": null,
          "transcript": "XM_047436539.1",
          "protein_id": "XP_047292495.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9551,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC124903827",
          "gene_hgnc_id": null,
          "hgvs_c": "c.*100C>T",
          "hgvs_p": null,
          "transcript": "XM_047436540.1",
          "protein_id": "XP_047292496.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10475,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC124903827",
          "gene_hgnc_id": null,
          "hgvs_c": "c.*100C>T",
          "hgvs_p": null,
          "transcript": "XM_047436541.1",
          "protein_id": "XP_047292497.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11686,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC124903827",
          "gene_hgnc_id": null,
          "hgvs_c": "c.*100C>T",
          "hgvs_p": null,
          "transcript": "XM_047436542.1",
          "protein_id": "XP_047292498.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 557,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 9328,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC124903827",
          "gene_hgnc_id": null,
          "hgvs_c": "c.*100C>T",
          "hgvs_p": null,
          "transcript": "XM_047436543.1",
          "protein_id": "XP_047292499.1",
          "transcript_support_level": null,
          "aa_start": 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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          "canonical": false,
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          "consequences": [
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          "exon_rank": 2,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "LOC124903827",
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          "hgvs_c": "c.*100C>T",
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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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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "LOC124903827",
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          "intron_rank": null,
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          "hgvs_c": "c.*100C>T",
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        {
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        {
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        },
        {
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          "intron_rank": null,
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          "gene_symbol": "LOC124903827",
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      "acmg_by_gene": [
        {
          "score": -14,
          "benign_score": 14,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Moderate",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000702683.2",
          "gene_symbol": "PRDM16-DT",
          "hgnc_id": 48664,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.300C>T",
          "hgvs_p": null
        },
        {
          "score": -14,
          "benign_score": 14,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Moderate",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "XM_047436534.1",
          "gene_symbol": "LOC124903827",
          "hgnc_id": null,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.*100C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "B:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}