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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: 15-89315371-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89315371&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 5,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "effects": [
            "synonymous_variant"
          ],
          "gene_symbol": "FANCI",
          "hgnc_id": 25568,
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "inheritance_mode": "AR",
          "pathogenic_score": 2,
          "score": -3,
          "transcript": "NM_001113378.2",
          "verdict": "Likely_benign"
        },
        {
          "benign_score": 4,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "effects": [
            "intron_variant"
          ],
          "gene_symbol": "POLG",
          "hgnc_id": 9179,
          "hgvs_c": "c.*45+1335A>T",
          "hgvs_p": null,
          "inheritance_mode": "AR,AD",
          "pathogenic_score": 2,
          "score": -2,
          "transcript": "ENST00000635831.1",
          "verdict": "Likely_benign"
        }
      ],
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_score": -3,
      "allele_count_reference_population": 3,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "A",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.82,
      "chr": "15",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": -0.8199999928474426,
      "computational_source_selected": "BayesDel_noAF",
      "consequences": [
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4733,
          "cdna_start": 3980,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 38,
          "exon_rank": 37,
          "exon_rank_end": null,
          "feature": "NM_001113378.2",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000310775.12",
          "protein_coding": true,
          "protein_id": "NP_001106849.1",
          "strand": true,
          "transcript": "NM_001113378.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 4733,
          "cdna_start": 3980,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 38,
          "exon_rank": 37,
          "exon_rank_end": null,
          "feature": "ENST00000310775.12",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_001113378.2",
          "protein_coding": true,
          "protein_id": "ENSP00000310842.8",
          "strand": true,
          "transcript": "ENST00000310775.12",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1372,
          "aa_ref": "G",
          "aa_start": 1346,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4239,
          "cdna_start": 4146,
          "cds_end": null,
          "cds_length": 4119,
          "cds_start": 4038,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 39,
          "exon_rank": 38,
          "exon_rank_end": null,
          "feature": "ENST00000674831.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.4038T>A",
          "hgvs_p": "p.Gly1346Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000502474.1",
          "strand": true,
          "transcript": "ENST00000674831.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1336,
          "aa_ref": "G",
          "aa_start": 1310,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4737,
          "cdna_start": 3989,
          "cds_end": null,
          "cds_length": 4011,
          "cds_start": 3930,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 38,
          "exon_rank": 37,
          "exon_rank_end": null,
          "feature": "ENST00000940814.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3930T>A",
          "hgvs_p": "p.Gly1310Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000610873.1",
          "strand": true,
          "transcript": "ENST00000940814.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4744,
          "cdna_start": 3991,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 38,
          "exon_rank": 37,
          "exon_rank_end": null,
          "feature": "NM_001376911.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001363840.1",
          "strand": true,
          "transcript": "NM_001376911.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4784,
          "cdna_start": 4082,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 39,
          "exon_rank": 38,
          "exon_rank_end": null,
          "feature": "ENST00000696719.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000512832.1",
          "strand": true,
          "transcript": "ENST00000696719.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4748,
          "cdna_start": 3995,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 38,
          "exon_rank": 37,
          "exon_rank_end": null,
          "feature": "ENST00000886451.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000556509.1",
          "strand": true,
          "transcript": "ENST00000886451.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4801,
          "cdna_start": 4048,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 39,
          "exon_rank": 38,
          "exon_rank_end": null,
          "feature": "ENST00000886459.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000556518.1",
          "strand": true,
          "transcript": "ENST00000886459.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4236,
          "cdna_start": 4070,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 39,
          "exon_rank": 38,
          "exon_rank_end": null,
          "feature": "ENST00000886461.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000556520.1",
          "strand": true,
          "transcript": "ENST00000886461.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4682,
          "cdna_start": 4580,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 38,
          "exon_rank": 37,
          "exon_rank_end": null,
          "feature": "ENST00000886463.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000556522.1",
          "strand": true,
          "transcript": "ENST00000886463.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5712,
          "cdna_start": 3999,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 38,
          "exon_rank": 37,
          "exon_rank_end": null,
          "feature": "ENST00000940788.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000610847.1",
          "strand": true,
          "transcript": "ENST00000940788.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4846,
          "cdna_start": 4093,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 39,
          "exon_rank": 38,
          "exon_rank_end": null,
          "feature": "ENST00000940789.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000610848.1",
          "strand": true,
          "transcript": "ENST00000940789.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4786,
          "cdna_start": 4032,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 39,
          "exon_rank": 38,
          "exon_rank_end": null,
          "feature": "ENST00000940790.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000610849.1",
          "strand": true,
          "transcript": "ENST00000940790.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4855,
          "cdna_start": 4100,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 39,
          "exon_rank": 38,
          "exon_rank_end": null,
          "feature": "ENST00000940794.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000610853.1",
          "strand": true,
          "transcript": "ENST00000940794.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4870,
          "cdna_start": 4116,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 39,
          "exon_rank": 38,
          "exon_rank_end": null,
          "feature": "ENST00000940795.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000610854.1",
          "strand": true,
          "transcript": "ENST00000940795.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4847,
          "cdna_start": 4093,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 39,
          "exon_rank": 38,
          "exon_rank_end": null,
          "feature": "ENST00000940796.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000610855.1",
          "strand": true,
          "transcript": "ENST00000940796.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4841,
          "cdna_start": 4088,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 39,
          "exon_rank": 38,
          "exon_rank_end": null,
          "feature": "ENST00000940798.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000610857.1",
          "strand": true,
          "transcript": "ENST00000940798.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
          "aa_start": 1302,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4873,
          "cdna_start": 4119,
          "cds_end": null,
          "cds_length": 3987,
          "cds_start": 3906,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 39,
          "exon_rank": 38,
          "exon_rank_end": null,
          "feature": "ENST00000940799.1",
          "gene_hgnc_id": 25568,
          "gene_symbol": "FANCI",
          "hgvs_c": "c.3906T>A",
          "hgvs_p": "p.Gly1302Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000610858.1",
          "strand": true,
          "transcript": "ENST00000940799.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 1328,
          "aa_ref": "G",
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      "mitotip_score": null,
      "pathogenicity_classification_combined": null,
      "phenotype_combined": null,
      "phylop100way_prediction": "Benign",
      "phylop100way_score": -0.907,
      "pos": 89315371,
      "ref": "T",
      "revel_prediction": null,
      "revel_score": null,
      "splice_prediction_selected": "Benign",
      "splice_score_selected": 0,
      "splice_source_selected": "max_spliceai",
      "spliceai_max_prediction": "Benign",
      "spliceai_max_score": 0,
      "transcript": "NM_001113378.2"
    }
  ]
}
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