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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: 17-61859893-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61859893&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 61859893,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000259008.7",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRIP1",
          "gene_hgnc_id": 20473,
          "hgvs_c": "c.108A>G",
          "hgvs_p": "p.Leu36Leu",
          "transcript": "NM_032043.3",
          "protein_id": "NP_114432.2",
          "transcript_support_level": null,
          "aa_start": 36,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": 108,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": 383,
          "cdna_end": null,
          "cdna_length": 8182,
          "mane_select": "ENST00000259008.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRIP1",
          "gene_hgnc_id": 20473,
          "hgvs_c": "c.108A>G",
          "hgvs_p": "p.Leu36Leu",
          "transcript": "ENST00000259008.7",
          "protein_id": "ENSP00000259008.2",
          "transcript_support_level": 1,
          "aa_start": 36,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": 108,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": 383,
          "cdna_end": null,
          "cdna_length": 8182,
          "mane_select": "NM_032043.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRIP1",
          "gene_hgnc_id": 20473,
          "hgvs_c": "c.108A>G",
          "hgvs_p": "p.Leu36Leu",
          "transcript": "ENST00000682453.1",
          "protein_id": "ENSP00000506943.1",
          "transcript_support_level": null,
          "aa_start": 36,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": 108,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": 221,
          "cdna_end": null,
          "cdna_length": 5893,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRIP1",
          "gene_hgnc_id": 20473,
          "hgvs_c": "c.108A>G",
          "hgvs_p": "p.Leu36Leu",
          "transcript": "ENST00000683039.1",
          "protein_id": "ENSP00000508303.1",
          "transcript_support_level": null,
          "aa_start": 36,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": 108,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": 430,
          "cdna_end": null,
          "cdna_length": 6102,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRIP1",
          "gene_hgnc_id": 20473,
          "hgvs_c": "c.108A>G",
          "hgvs_p": "p.Leu36Leu",
          "transcript": "ENST00000682755.1",
          "protein_id": "ENSP00000507660.1",
          "transcript_support_level": null,
          "aa_start": 36,
          "aa_end": null,
          "aa_length": 1175,
          "cds_start": 108,
          "cds_end": null,
          "cds_length": 3528,
          "cdna_start": 138,
          "cdna_end": null,
          "cdna_length": 7715,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRIP1",
          "gene_hgnc_id": 20473,
          "hgvs_c": "c.108A>G",
          "hgvs_p": "p.Leu36Leu",
          "transcript": "ENST00000577598.5",
          "protein_id": "ENSP00000464654.1",
          "transcript_support_level": 5,
          "aa_start": 36,
          "aa_end": null,
          "aa_length": 994,
          "cds_start": 108,
          "cds_end": null,
          "cds_length": 2985,
          "cdna_start": 108,
          "cdna_end": null,
          "cdna_length": 3969,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRIP1",
          "gene_hgnc_id": 20473,
          "hgvs_c": "c.108A>G",
          "hgvs_p": "p.Leu36Leu",
          "transcript": "ENST00000683381.1",
          "protein_id": "ENSP00000508184.1",
          "transcript_support_level": null,
          "aa_start": 36,
          "aa_end": null,
          "aa_length": 872,
          "cds_start": 108,
          "cds_end": null,
          "cds_length": 2619,
          "cdna_start": 264,
          "cdna_end": null,
          "cdna_length": 2889,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRIP1",
          "gene_hgnc_id": 20473,
          "hgvs_c": "c.108A>G",
          "hgvs_p": "p.Leu36Leu",
          "transcript": "ENST00000682989.1",
          "protein_id": "ENSP00000507786.1",
          "transcript_support_level": null,
          "aa_start": 36,
          "aa_end": null,
          "aa_length": 870,
          "cds_start": 108,
          "cds_end": null,
          "cds_length": 2613,
          "cdna_start": 351,
          "cdna_end": null,
          "cdna_length": 5721,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "BRIP1",
          "gene_hgnc_id": 20473,
          "hgvs_c": "c.108A>G",
          "hgvs_p": "p.Leu36Leu",
          "transcript": "ENST00000584322.2",
          "protein_id": "ENSP00000463272.2",
          "transcript_support_level": 3,
          "aa_start": 36,
          "aa_end": null,
          "aa_length": 852,
          "cds_start": 108,
          "cds_end": null,
          "cds_length": 2559,
          "cdna_start": 182,
          "cdna_end": null,
          "cdna_length": 2807,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BRIP1",
          "gene_hgnc_id": 20473,
          "hgvs_c": "c.108A>G",
          "hgvs_p": "p.Leu36Leu",
          "transcript": "ENST00000577913.2",
          "protein_id": "ENSP00000462274.2",
          "transcript_support_level": 5,
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          "cds_start": 108,
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          "cds_length": 663,
          "cdna_start": 410,
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          "mane_select": null,
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        {
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          "gene_symbol": "BRIP1",
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          "hgvs_c": "c.108A>G",
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          "transcript": "ENST00000682369.1",
          "protein_id": "ENSP00000507450.1",
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          "cds_start": 108,
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          "mane_select": null,
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        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "BRIP1",
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          "hgvs_c": "c.108A>G",
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        {
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          ],
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          "gene_symbol": "BRIP1",
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          "hgvs_c": "c.108A>G",
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          "transcript": "XM_011525334.3",
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        {
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        {
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          "gene_symbol": "BRIP1",
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          "transcript": "XM_047436891.1",
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        {
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          "gene_symbol": "BRIP1",
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        {
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        {
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          "gene_symbol": "BRIP1",
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        },
        {
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          ],
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          "gene_symbol": "BRIP1",
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      "dbsnp": "rs774586397",
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      "gnomad_exomes_af": null,
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      "computational_score_selected": -0.5299999713897705,
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      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
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      "bayesdelnoaf_score": -0.53,
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      "phylop100way_score": 0.611,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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          "verdict": "Benign",
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      "clinvar_disease": "Familial cancer of breast,Fanconi anemia complementation group J,Hereditary cancer-predisposing syndrome",
      "clinvar_classification": "Benign/Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2 B:1",
      "phenotype_combined": "Familial cancer of breast;Fanconi anemia complementation group J|Familial cancer of breast|Hereditary cancer-predisposing syndrome",
      "pathogenicity_classification_combined": "Benign/Likely benign",
      "custom_annotations": null
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  "message": null
}