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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: 12-26992864-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=26992864&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 26992864,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_016551.3",
      "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.691-2237A>C",
          "hgvs_p": null,
          "transcript": "NM_016551.3",
          "protein_id": "NP_057635.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 570,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1713,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000343028.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_016551.3"
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.691-2237A>C",
          "hgvs_p": null,
          "transcript": "ENST00000343028.9",
          "protein_id": "ENSP00000342322.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 570,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1713,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_016551.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000343028.9"
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.781-2237A>C",
          "hgvs_p": null,
          "transcript": "ENST00000867962.1",
          "protein_id": "ENSP00000538021.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 600,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1803,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867962.1"
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.781-2237A>C",
          "hgvs_p": null,
          "transcript": "ENST00000867963.1",
          "protein_id": "ENSP00000538022.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 595,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1788,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867963.1"
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.691-2237A>C",
          "hgvs_p": null,
          "transcript": "ENST00000867959.1",
          "protein_id": "ENSP00000538018.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867959.1"
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.691-2237A>C",
          "hgvs_p": null,
          "transcript": "ENST00000913606.1",
          "protein_id": "ENSP00000583665.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 564,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913606.1"
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.690+2373A>C",
          "hgvs_p": null,
          "transcript": "ENST00000867968.1",
          "protein_id": "ENSP00000538027.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867968.1"
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.691-2237A>C",
          "hgvs_p": null,
          "transcript": "ENST00000867974.1",
          "protein_id": "ENSP00000538033.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867974.1"
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.691-2237A>C",
          "hgvs_p": null,
          "transcript": "ENST00000867976.1",
          "protein_id": "ENSP00000538035.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867976.1"
        },
        {
          "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": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.541-2237A>C",
          "hgvs_p": null,
          "transcript": "ENST00000867969.1",
          "protein_id": "ENSP00000538028.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 520,
          "cds_start": null,
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          "cds_length": 1563,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000867969.1"
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 4,
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          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.508-2237A>C",
          "hgvs_p": null,
          "transcript": "ENST00000867961.1",
          "protein_id": "ENSP00000538020.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 509,
          "cds_start": null,
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          "cds_length": 1530,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 5,
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          "gene_symbol": "TM7SF3",
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          "hgvs_c": "c.691-2237A>C",
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          "transcript": "ENST00000867964.1",
          "protein_id": "ENSP00000538023.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "gene_symbol": "TM7SF3",
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          "hgvs_c": "c.691-2237A>C",
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          "transcript": "ENST00000913605.1",
          "protein_id": "ENSP00000583664.1",
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        {
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          "exon_count": 10,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.385-2237A>C",
          "hgvs_p": null,
          "transcript": "ENST00000867960.1",
          "protein_id": "ENSP00000538019.1",
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        {
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          "exon_count": 9,
          "intron_rank": 3,
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          "gene_symbol": "TM7SF3",
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          "transcript": "ENST00000949294.1",
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        {
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          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.691-2237A>C",
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          "transcript": "ENST00000867970.1",
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        {
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          "gene_symbol": "TM7SF3",
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        {
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          "consequences": [
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          ],
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          "exon_count": 7,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TM7SF3",
          "gene_hgnc_id": 23049,
          "hgvs_c": "c.690+2373A>C",
          "hgvs_p": null,
          "transcript": "ENST00000867958.1",
          "protein_id": "ENSP00000538017.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "consequences": [
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      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.75,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.75,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.667,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_016551.3",
          "gene_symbol": "TM7SF3",
          "hgnc_id": 23049,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.691-2237A>C",
          "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
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.