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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: 14-89955920-G-GGCC (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=89955920&ref=G&alt=GGCC&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 89955920,
      "ref": "G",
      "alt": "GGCC",
      "effect": "5_prime_UTR_variant",
      "transcript": "NM_018319.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "c.-276_-274dupCCG",
          "hgvs_p": null,
          "transcript": "NM_018319.4",
          "protein_id": "NP_060789.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000335725.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_018319.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "c.-276_-274dupCCG",
          "hgvs_p": null,
          "transcript": "ENST00000335725.9",
          "protein_id": "ENSP00000337353.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_018319.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000335725.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "c.-276_-274dupCCG",
          "hgvs_p": null,
          "transcript": "ENST00000393452.7",
          "protein_id": "ENSP00000377098.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 589,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1770,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393452.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "c.-53_-51dupCCG",
          "hgvs_p": null,
          "transcript": "ENST00000935815.1",
          "protein_id": "ENSP00000605874.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 675,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2028,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000935815.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "c.-276_-274dupCCG",
          "hgvs_p": null,
          "transcript": "ENST00000894818.1",
          "protein_id": "ENSP00000564877.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 650,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1953,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894818.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "c.-53_-51dupCCG",
          "hgvs_p": null,
          "transcript": "NM_001008744.2",
          "protein_id": "NP_001008744.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001008744.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "c.-160_-158dupCCG",
          "hgvs_p": null,
          "transcript": "ENST00000935812.1",
          "protein_id": "ENSP00000605871.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000935812.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "c.-273_-271dupCCG",
          "hgvs_p": null,
          "transcript": "ENST00000935813.1",
          "protein_id": "ENSP00000605872.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000935813.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "c.-361_-359dupCCG",
          "hgvs_p": null,
          "transcript": "NM_001330205.2",
          "protein_id": "NP_001317134.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 578,
          "cds_start": null,
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          "cds_length": 1737,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001330205.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "c.-276_-274dupCCG",
          "hgvs_p": null,
          "transcript": "ENST00000953174.1",
          "protein_id": "ENSP00000623233.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 552,
          "cds_start": null,
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          "cds_length": 1659,
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        {
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "c.-53_-51dupCCG",
          "hgvs_p": null,
          "transcript": "ENST00000554180.5",
          "protein_id": "ENSP00000450872.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 278,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "intron_rank": null,
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          "gene_symbol": "TDP1",
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        {
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          "gene_symbol": "TDP1",
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          "transcript": "XM_006720197.5",
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        {
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          "intron_rank": null,
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          "gene_symbol": "TDP1",
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        {
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          "gene_symbol": "TDP1",
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          "gene_symbol": "TDP1",
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          "gene_symbol": "TDP1",
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          "transcript": "XR_007064032.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "pseudogene",
          "feature": "XR_007064032.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "n.-7_-6insGCC",
          "hgvs_p": null,
          "transcript": "XR_007064033.1",
          "protein_id": null,
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          "aa_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "pseudogene",
          "feature": "XR_007064033.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "n.-7_-6insGCC",
          "hgvs_p": null,
          "transcript": "XR_007064034.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007064034.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TDP1",
          "gene_hgnc_id": 18884,
          "hgvs_c": "n.-7_-6insGCC",
          "hgvs_p": null,
          "transcript": "XR_007064035.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007064035.1"
        }
      ],
      "gene_symbol": "TDP1",
      "gene_hgnc_id": 18884,
      "dbsnp": "rs35210768",
      "frequency_reference_population": 0.072922684,
      "hom_count_reference_population": 714,
      "allele_count_reference_population": 11114,
      "gnomad_exomes_af": 0.057377,
      "gnomad_genomes_af": 0.0729351,
      "gnomad_exomes_ac": 7,
      "gnomad_genomes_ac": 11107,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 714,
      "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": 0.523,
      "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": -10,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP6_Moderate,BA1",
      "acmg_by_gene": [
        {
          "score": -10,
          "benign_score": 10,
          "pathogenic_score": 0,
          "criteria": [
            "BP6_Moderate",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_018319.4",
          "gene_symbol": "TDP1",
          "hgnc_id": 18884,
          "effects": [
            "5_prime_UTR_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-276_-274dupCCG",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Autosomal recessive cerebellar ataxia",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "B:1",
      "phenotype_combined": "Autosomal recessive cerebellar ataxia",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}