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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: 12-64464320-A-ATTT (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=64464320&ref=A&alt=ATTT&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 64464320,
      "ref": "A",
      "alt": "ATTT",
      "effect": "intron_variant",
      "transcript": "ENST00000331710.10",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TBK1",
          "gene_hgnc_id": 11584,
          "hgvs_c": "c.229-6_229-4dupTTT",
          "hgvs_p": null,
          "transcript": "NM_013254.4",
          "protein_id": "NP_037386.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 729,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2190,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3022,
          "mane_select": "ENST00000331710.10",
          "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": 21,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TBK1",
          "gene_hgnc_id": 11584,
          "hgvs_c": "c.229-14_229-13insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000331710.10",
          "protein_id": "ENSP00000329967.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 729,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2190,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3022,
          "mane_select": "NM_013254.4",
          "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": 21,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TBK1",
          "gene_hgnc_id": 11584,
          "hgvs_c": "c.229-14_229-13insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000650790.1",
          "protein_id": "ENSP00000498995.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 729,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2190,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3006,
          "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": 21,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TBK1",
          "gene_hgnc_id": 11584,
          "hgvs_c": "c.229-14_229-13insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000677641.1",
          "protein_id": "ENSP00000504637.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 728,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2187,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3001,
          "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": 21,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TBK1",
          "gene_hgnc_id": 11584,
          "hgvs_c": "c.229-14_229-13insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000677632.1",
          "protein_id": "ENSP00000504586.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 724,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2175,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2959,
          "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": 20,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TBK1",
          "gene_hgnc_id": 11584,
          "hgvs_c": "c.229-14_229-13insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000652657.1",
          "protein_id": "ENSP00000498887.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2944,
          "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": 20,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TBK1",
          "gene_hgnc_id": 11584,
          "hgvs_c": "c.229-14_229-13insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000678180.1",
          "protein_id": "ENSP00000504132.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 695,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2088,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2869,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "TBK1",
          "gene_hgnc_id": 11584,
          "hgvs_c": "c.73-14_73-13insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000651014.1",
          "protein_id": "ENSP00000498885.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3046,
          "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": 21,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TBK1",
          "gene_hgnc_id": 11584,
          "hgvs_c": "c.73-14_73-13insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000676912.1",
          "protein_id": "ENSP00000503567.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2956,
          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 20,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TBK1",
          "gene_hgnc_id": 11584,
          "hgvs_c": "c.73-14_73-13insTTT",
          "hgvs_p": null,
          "transcript": "ENST00000650762.1",
          "protein_id": "ENSP00000498758.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cds_length": 1932,
          "cdna_start": null,
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          "mane_select": null,
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        {
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          "transcript": "ENST00000676930.1",
          "protein_id": "ENSP00000502899.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": true,
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          "transcript": "ENST00000676469.1",
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        {
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          "hgvs_c": "n.*374-14_*374-13insTTT",
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        {
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        {
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          "protein_id": "ENSP00000499077.1",
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          "cdna_length": 3151,
          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TBK1",
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          "hgvs_c": "n.317-14_317-13insTTT",
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          "transcript": "ENST00000651947.1",
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      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": 1.045,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000331710.10",
          "gene_symbol": "TBK1",
          "hgnc_id": 11584,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.229-14_229-13insTTT",
          "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
}