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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: 10-24503786-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=24503786&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 24503786,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000376454.8",
      "consequences": [
        {
          "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": 9,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2001+2241C>G",
          "hgvs_p": null,
          "transcript": "NM_019590.5",
          "protein_id": "NP_062536.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1943,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5832,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7407,
          "mane_select": "ENST00000376454.8",
          "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": 9,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2001+2241C>G",
          "hgvs_p": null,
          "transcript": "ENST00000376454.8",
          "protein_id": "ENSP00000365637.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1943,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5832,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7407,
          "mane_select": "NM_019590.5",
          "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": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.1050+2241C>G",
          "hgvs_p": null,
          "transcript": "ENST00000376451.4",
          "protein_id": "ENSP00000365634.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1465,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7383,
          "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": 19,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.1896+2241C>G",
          "hgvs_p": null,
          "transcript": "ENST00000376452.7",
          "protein_id": "ENSP00000365635.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1374,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4125,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6052,
          "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": 18,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.1896+2241C>G",
          "hgvs_p": null,
          "transcript": "ENST00000458595.5",
          "protein_id": "ENSP00000392625.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1349,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4050,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5977,
          "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": 19,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.1761+2241C>G",
          "hgvs_p": null,
          "transcript": "ENST00000376462.5",
          "protein_id": "ENSP00000365645.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1264,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3795,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6123,
          "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": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.1050+2241C>G",
          "hgvs_p": null,
          "transcript": "ENST00000307544.10",
          "protein_id": "ENSP00000302343.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 932,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2799,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3281,
          "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": 13,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.1050+2241C>G",
          "hgvs_p": null,
          "transcript": "ENST00000396445.5",
          "protein_id": "ENSP00000379722.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5706,
          "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": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.1050+2241C>G",
          "hgvs_p": null,
          "transcript": "ENST00000396446.5",
          "protein_id": "ENSP00000379723.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 866,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2601,
          "cdna_start": null,
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          "cdna_length": 3059,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.1764+2241C>G",
          "hgvs_p": null,
          "transcript": "ENST00000696626.1",
          "protein_id": "ENSP00000512763.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1864,
          "cds_start": -4,
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          "cds_length": 5595,
          "cdna_start": null,
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          "cdna_length": 8471,
          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 19,
          "intron_rank": 8,
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          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.1896+2241C>G",
          "hgvs_p": null,
          "transcript": "NM_001282767.2",
          "protein_id": "NP_001269696.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 5700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "exon_count": 18,
          "intron_rank": 8,
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          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.1896+2241C>G",
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          "mane_select": null,
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        {
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          "intron_rank": 10,
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          "gene_symbol": "KIAA1217",
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          "hgvs_c": "c.1761+2241C>G",
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          "transcript": "NM_001098500.3",
          "protein_id": "NP_001091970.1",
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          "cdna_start": null,
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        {
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          "gene_symbol": "KIAA1217",
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          "hgvs_c": "c.1761+2241C>G",
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          "transcript": "ENST00000430453.6",
          "protein_id": "ENSP00000389680.3",
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          "gene_symbol": "KIAA1217",
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          "transcript": "ENST00000376456.8",
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          "intron_rank": 4,
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          "gene_symbol": "KIAA1217",
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          "hgvs_c": "c.1050+2241C>G",
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        {
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          "gene_symbol": "KIAA1217",
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          "gene_symbol": "KIAA1217",
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          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "n.390+2241C>G",
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          "transcript": "ENST00000460373.1",
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          "transcript_support_level": 5,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2001+2241C>G",
          "hgvs_p": null,
          "transcript": "XM_047425494.1",
          "protein_id": "XP_047281450.1",
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        {
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        {
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          "hgvs_c": "c.1050+2241C>G",
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          "transcript": "XM_047425534.1",
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        {
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          "gene_symbol": "KIAA1217",
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          "hgvs_c": "c.1050+2241C>G",
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          "transcript": "XM_047425535.1",
          "protein_id": "XP_047281491.1",
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      ],
      "gene_symbol": "KIAA1217",
      "gene_hgnc_id": 25428,
      "dbsnp": "rs12221235",
      "frequency_reference_population": 0.09956912,
      "hom_count_reference_population": 1050,
      "allele_count_reference_population": 15159,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.0995691,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 15159,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 1050,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9700000286102295,
      "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": -0.97,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -3.348,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000376454.8",
          "gene_symbol": "KIAA1217",
          "hgnc_id": 25428,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2001+2241C>G",
          "hgvs_p": null
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}