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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: 2-99831464-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=99831464&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 99831464,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000672756.2",
      "consequences": [
        {
          "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": 25,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "c.921+6013A>G",
          "hgvs_p": null,
          "transcript": "NM_001386135.1",
          "protein_id": "NP_001373064.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3681,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10070,
          "mane_select": "ENST00000672756.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 25,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "c.921+6013A>G",
          "hgvs_p": null,
          "transcript": "ENST00000672756.2",
          "protein_id": "ENSP00000500419.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3681,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10070,
          "mane_select": "NM_001386135.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 24,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "c.996+6013A>G",
          "hgvs_p": null,
          "transcript": "NM_001025108.2",
          "protein_id": "NP_001020279.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1251,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3756,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9955,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 25,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "c.996+6013A>G",
          "hgvs_p": null,
          "transcript": "ENST00000409579.5",
          "protein_id": "ENSP00000386834.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1251,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3756,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4342,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 24,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "c.921+6013A>G",
          "hgvs_p": null,
          "transcript": "NM_002285.3",
          "protein_id": "NP_002276.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3681,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9987,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 24,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "c.921+6013A>G",
          "hgvs_p": null,
          "transcript": "ENST00000317233.8",
          "protein_id": "ENSP00000317421.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3681,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8135,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 23,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "c.921+6013A>G",
          "hgvs_p": null,
          "transcript": "ENST00000409236.6",
          "protein_id": "ENSP00000387207.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3681,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9849,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 14,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "c.921+6013A>G",
          "hgvs_p": null,
          "transcript": "ENST00000672204.1",
          "protein_id": "ENSP00000500616.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 607,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1824,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2060,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "n.261+6013A>G",
          "hgvs_p": null,
          "transcript": "ENST00000430789.1",
          "protein_id": "ENSP00000414099.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 730,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "n.996+6013A>G",
          "hgvs_p": null,
          "transcript": "ENST00000672269.1",
          "protein_id": "ENSP00000500310.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 2488,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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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,
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          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "n.193-5528A>G",
          "hgvs_p": null,
          "transcript": "ENST00000673529.1",
          "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": 634,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000299017",
          "gene_hgnc_id": null,
          "hgvs_c": "n.42-766T>C",
          "hgvs_p": null,
          "transcript": "ENST00000759875.1",
          "protein_id": null,
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        {
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          "exon_count": 25,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "c.1383+6013A>G",
          "hgvs_p": null,
          "transcript": "XM_024452883.2",
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        {
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          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
          "hgvs_c": "c.1383+6013A>G",
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          "protein_id": "XP_011509471.2",
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        {
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          "intron_rank": 7,
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          "gene_symbol": "AFF3",
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        {
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          "cdna_length": 9956,
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        },
        {
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          ],
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          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "AFF3",
          "gene_hgnc_id": 6473,
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          "transcript": "XM_047444280.1",
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          "verdict": "Benign",
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          "inheritance_mode": "",
          "hgvs_c": "n.42-766T>C",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}