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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: 20-3805025-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3805025&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "20",
      "pos": 3805025,
      "ref": "G",
      "alt": "A",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000245960.10",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "n.1748G>A",
          "hgvs_p": null,
          "transcript": "ENST00000467519.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1960,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "NM_021873.4",
          "protein_id": "NP_068659.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 580,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1743,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3119,
          "mane_select": "ENST00000245960.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "ENST00000245960.10",
          "protein_id": "ENSP00000245960.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 580,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1743,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3119,
          "mane_select": "NM_021873.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "ENST00000439880.6",
          "protein_id": "ENSP00000405972.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 566,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1701,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3096,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "ENST00000340833.4",
          "protein_id": "ENSP00000339170.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 539,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1620,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1978,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "n.1777G>A",
          "hgvs_p": null,
          "transcript": "NR_136335.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2867,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "n.1875G>A",
          "hgvs_p": null,
          "transcript": "NR_136336.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2965,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "NM_004358.5",
          "protein_id": "NP_004349.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 566,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1701,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3077,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "NM_021872.4",
          "protein_id": "NP_068658.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 539,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1620,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2996,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "NM_001287516.2",
          "protein_id": "NP_001274445.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2886,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "ENST00000344256.10",
          "protein_id": "ENSP00000339125.6",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3071,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "NM_001287517.2",
          "protein_id": "NP_001274446.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 502,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2844,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "NM_001287518.2",
          "protein_id": "NP_001274447.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1470,
          "cdna_start": null,
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          "cdna_length": 2805,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "ENST00000379598.9",
          "protein_id": "ENSP00000368918.5",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2990,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "NM_001287519.2",
          "protein_id": "NP_001274448.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 468,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1407,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2746,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "NM_001287520.2",
          "protein_id": "NP_001274449.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 468,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1407,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2788,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "NM_001287522.2",
          "protein_id": "NP_001274451.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC25B",
          "gene_hgnc_id": 1726,
          "hgvs_c": "c.*64G>A",
          "hgvs_p": null,
          "transcript": "NM_001287524.2",
          "protein_id": "NP_001274453.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 388,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1167,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2634,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "CDC25B",
      "gene_hgnc_id": 1726,
      "dbsnp": "rs41279402",
      "frequency_reference_population": 0.0055035795,
      "hom_count_reference_population": 45,
      "allele_count_reference_population": 8498,
      "gnomad_exomes_af": 0.00573145,
      "gnomad_genomes_af": 0.00342106,
      "gnomad_exomes_ac": 7977,
      "gnomad_genomes_ac": 521,
      "gnomad_exomes_homalt": 42,
      "gnomad_genomes_homalt": 3,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8199999928474426,
      "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": -0.82,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.161,
      "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": -8,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BS2",
      "acmg_by_gene": [
        {
          "score": -8,
          "benign_score": 8,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000245960.10",
          "gene_symbol": "CDC25B",
          "hgnc_id": 1726,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.*64G>A",
          "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
}