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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: 14-45183764-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45183764&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 45183764,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000267430.10",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.4387-10A>G",
          "hgvs_p": null,
          "transcript": "NM_020937.4",
          "protein_id": "NP_065988.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2048,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6147,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7131,
          "mane_select": "ENST00000267430.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.4387-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000267430.10",
          "protein_id": "ENSP00000267430.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2048,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6147,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7131,
          "mane_select": "NM_020937.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.4309-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000542564.6",
          "protein_id": "ENSP00000442493.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2022,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6069,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6167,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.4180-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000556250.6",
          "protein_id": "ENSP00000452033.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1979,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5940,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6924,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "n.267A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696645.1",
          "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": 2220,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.4309-10A>G",
          "hgvs_p": null,
          "transcript": "NM_001308133.2",
          "protein_id": "NP_001295062.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2022,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6069,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7053,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.4231-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696649.1",
          "protein_id": "ENSP00000512780.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1996,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5991,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6902,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.3217-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696664.1",
          "protein_id": "ENSP00000512790.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1658,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4977,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5812,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.3202-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696683.1",
          "protein_id": "ENSP00000512806.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1590,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4773,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5657,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.2599-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000554809.6",
          "protein_id": "ENSP00000450632.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1487,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4527,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.3202-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696684.1",
          "protein_id": "ENSP00000512807.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1401,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4206,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5178,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.2383-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696659.1",
          "protein_id": "ENSP00000512785.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1128,
          "cds_start": -4,
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          "cds_length": 3387,
          "cdna_start": null,
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          "cdna_length": 3783,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.163-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000555484.2",
          "protein_id": "ENSP00000450797.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 572,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1719,
          "cdna_start": null,
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          "cdna_length": 1888,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "c.163-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696665.1",
          "protein_id": "ENSP00000512791.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 508,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1527,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2467,
          "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": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "n.220-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000555013.1",
          "protein_id": null,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "n.163-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000557110.2",
          "protein_id": "ENSP00000451846.2",
          "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,
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          "cdna_length": 2090,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "n.*3198-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696642.1",
          "protein_id": "ENSP00000512775.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
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          "cdna_length": 5246,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "n.123-10A>G",
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          "transcript": "ENST00000696644.1",
          "protein_id": null,
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          "cdna_length": 576,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "n.4387-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696647.1",
          "protein_id": "ENSP00000512778.1",
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 24,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "n.*2412-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696648.1",
          "protein_id": "ENSP00000512779.1",
          "transcript_support_level": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 6349,
          "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": 19,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "FANCM",
          "gene_hgnc_id": 23168,
          "hgvs_c": "n.4335-10A>G",
          "hgvs_p": null,
          "transcript": "ENST00000696650.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Spermatogenic failure 28",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
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  "message": null
}