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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: 5-88567015-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=88567015&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 88567015,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000506664.8",
      "consequences": [
        {
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.218-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000502301.6",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": "pseudogene",
          "feature": "ENST00000502301.6"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.166-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000504034.3",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": "pseudogene",
          "feature": "ENST00000504034.3"
        },
        {
          "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.152-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000506014.6",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": "pseudogene",
          "feature": "ENST00000506014.6"
        },
        {
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.108-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000506664.8",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": "pseudogene",
          "feature": "ENST00000506664.8"
        },
        {
          "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": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.266-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000506978.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": "pseudogene",
          "feature": "ENST00000506978.5"
        },
        {
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.259-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000508885.7",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": "pseudogene",
          "feature": "ENST00000508885.7"
        },
        {
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.416-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000509405.7",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": "pseudogene",
          "feature": "ENST00000509405.7"
        },
        {
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.235-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000513805.7",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": "pseudogene",
          "feature": "ENST00000513805.7"
        },
        {
          "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.417-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000656755.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "ENST00000656755.2"
        },
        {
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.500-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000659156.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "ENST00000659156.2"
        },
        {
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.273-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000662060.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000662060.1"
        },
        {
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.412-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000662192.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.426-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000664240.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "mane_select": null,
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          "biotype": "pseudogene",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.416-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000665062.2",
          "protein_id": null,
          "transcript_support_level": null,
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          "aa_length": null,
          "cds_start": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000665062.2"
        },
        {
          "aa_ref": null,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
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          "gene_symbol": "MIR9-2HG",
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          "hgvs_c": "n.611-24945G>A",
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          "biotype": "pseudogene",
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        },
        {
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          "canonical": false,
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.290-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000666297.2",
          "protein_id": null,
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 3,
          "intron_rank": 1,
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          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.300-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000668089.2",
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          "mane_select": null,
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          "biotype": "pseudogene",
          "feature": "ENST00000668089.2"
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 6,
          "intron_rank": 4,
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          "gene_symbol": "MIR9-2HG",
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        {
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          ],
          "exon_rank": null,
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          "exon_count": 3,
          "intron_rank": 1,
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          "gene_symbol": "MIR9-2HG",
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          "hgvs_c": "n.323-24945G>A",
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          "transcript": "ENST00000670494.2",
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          "biotype": "pseudogene",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.241-24945G>A",
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          "transcript": "ENST00000687262.2",
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000687262.2"
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MIR9-2HG",
          "gene_hgnc_id": 42810,
          "hgvs_c": "n.176-24945G>A",
          "hgvs_p": null,
          "transcript": "ENST00000689967.2",
          "protein_id": null,
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          ],
          "verdict": "Benign",
          "transcript": "ENST00000506664.8",
          "gene_symbol": "MIR9-2HG",
          "hgnc_id": 42810,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.108-24945G>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
}