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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: 3-195868183-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195868183&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 195868183,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000672887.2",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2115G>A",
          "hgvs_p": "p.Pro705Pro",
          "transcript": "NM_001382273.1",
          "protein_id": "NP_001369202.1",
          "transcript_support_level": null,
          "aa_start": 705,
          "aa_end": null,
          "aa_length": 1055,
          "cds_start": 2115,
          "cds_end": null,
          "cds_length": 3168,
          "cdna_start": 2200,
          "cdna_end": null,
          "cdna_length": 4070,
          "mane_select": "ENST00000672887.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2115G>A",
          "hgvs_p": "p.Pro705Pro",
          "transcript": "ENST00000672887.2",
          "protein_id": "ENSP00000499899.1",
          "transcript_support_level": null,
          "aa_start": 705,
          "aa_end": null,
          "aa_length": 1055,
          "cds_start": 2115,
          "cds_end": null,
          "cds_length": 3168,
          "cdna_start": 2200,
          "cdna_end": null,
          "cdna_length": 4070,
          "mane_select": "NM_001382273.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2166G>A",
          "hgvs_p": "p.Pro722Pro",
          "transcript": "ENST00000428187.7",
          "protein_id": "ENSP00000392546.1",
          "transcript_support_level": 1,
          "aa_start": 722,
          "aa_end": null,
          "aa_length": 1040,
          "cds_start": 2166,
          "cds_end": null,
          "cds_length": 3123,
          "cdna_start": 2462,
          "cdna_end": null,
          "cdna_length": 4235,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2070G>A",
          "hgvs_p": "p.Pro690Pro",
          "transcript": "ENST00000333602.14",
          "protein_id": "ENSP00000329425.6",
          "transcript_support_level": 1,
          "aa_start": 690,
          "aa_end": null,
          "aa_length": 1038,
          "cds_start": 2070,
          "cds_end": null,
          "cds_length": 3117,
          "cdna_start": 3406,
          "cdna_end": null,
          "cdna_length": 5270,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2211G>A",
          "hgvs_p": "p.Pro737Pro",
          "transcript": "NM_001387707.1",
          "protein_id": "NP_001374636.1",
          "transcript_support_level": null,
          "aa_start": 737,
          "aa_end": null,
          "aa_length": 1087,
          "cds_start": 2211,
          "cds_end": null,
          "cds_length": 3264,
          "cdna_start": 2467,
          "cdna_end": null,
          "cdna_length": 4337,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2304G>A",
          "hgvs_p": "p.Pro768Pro",
          "transcript": "ENST00000381916.7",
          "protein_id": "ENSP00000371341.2",
          "transcript_support_level": 2,
          "aa_start": 768,
          "aa_end": null,
          "aa_length": 1086,
          "cds_start": 2304,
          "cds_end": null,
          "cds_length": 3261,
          "cdna_start": 2449,
          "cdna_end": null,
          "cdna_length": 4222,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2187G>A",
          "hgvs_p": "p.Pro729Pro",
          "transcript": "NM_001382272.1",
          "protein_id": "NP_001369201.1",
          "transcript_support_level": null,
          "aa_start": 729,
          "aa_end": null,
          "aa_length": 1079,
          "cds_start": 2187,
          "cds_end": null,
          "cds_length": 3240,
          "cdna_start": 2236,
          "cdna_end": null,
          "cdna_length": 4106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2166G>A",
          "hgvs_p": "p.Pro722Pro",
          "transcript": "NM_001382271.1",
          "protein_id": "NP_001369200.1",
          "transcript_support_level": null,
          "aa_start": 722,
          "aa_end": null,
          "aa_length": 1072,
          "cds_start": 2166,
          "cds_end": null,
          "cds_length": 3219,
          "cdna_start": 2422,
          "cdna_end": null,
          "cdna_length": 4292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2166G>A",
          "hgvs_p": "p.Pro722Pro",
          "transcript": "ENST00000673038.1",
          "protein_id": "ENSP00000500452.1",
          "transcript_support_level": null,
          "aa_start": 722,
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          "cds_start": 2166,
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          "cdna_start": 2406,
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          "mane_select": null,
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        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 12,
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.2166G>A",
          "hgvs_p": "p.Pro722Pro",
          "transcript": "ENST00000678220.1",
          "protein_id": "ENSP00000503221.1",
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          "cds_start": 2166,
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        {
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          "gene_symbol": "TNK2",
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          "transcript": "NM_001387708.1",
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        {
          "aa_ref": "P",
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        {
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        {
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        {
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          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "TNK2",
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          "hgvs_c": "n.*727G>A",
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          "transcript": "ENST00000439230.6",
          "protein_id": "ENSP00000395588.1",
          "transcript_support_level": 1,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2359,
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        {
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          "protein_coding": true,
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          "consequences": [
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          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "c.*166G>A",
          "hgvs_p": null,
          "transcript": "ENST00000672098.1",
          "protein_id": "ENSP00000500684.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 143,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 434,
          "cdna_start": null,
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          "cdna_length": 733,
          "mane_select": null,
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        },
        {
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          "protein_coding": false,
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          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "n.*42G>A",
          "hgvs_p": null,
          "transcript": "ENST00000672614.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": 5940,
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        },
        {
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          "protein_coding": false,
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          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "n.*112G>A",
          "hgvs_p": null,
          "transcript": "ENST00000673358.1",
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          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
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          "cdna_length": 1555,
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        },
        {
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          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "TNK2",
          "gene_hgnc_id": 19297,
          "hgvs_c": "n.*2449G>A",
          "hgvs_p": null,
          "transcript": "ENST00000673374.1",
          "protein_id": "ENSP00000500225.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 3549,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "TNK2",
      "gene_hgnc_id": 19297,
      "dbsnp": "rs7516",
      "frequency_reference_population": 0.117014095,
      "hom_count_reference_population": 11645,
      "allele_count_reference_population": 188260,
      "gnomad_exomes_af": 0.118202,
      "gnomad_genomes_af": 0.105635,
      "gnomad_exomes_ac": 172199,
      "gnomad_genomes_ac": 16061,
      "gnomad_exomes_homalt": 10735,
      "gnomad_genomes_homalt": 910,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8899999856948853,
      "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": -0.89,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.949,
      "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": -21,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
      "acmg_by_gene": [
        {
          "score": -21,
          "benign_score": 21,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000672887.2",
          "gene_symbol": "TNK2",
          "hgnc_id": 19297,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2115G>A",
          "hgvs_p": "p.Pro705Pro"
        }
      ],
      "clinvar_disease": "not provided,not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:3",
      "phenotype_combined": "not specified|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}