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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: 13-50910116-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=50910116&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 50910116,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000336617.8",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "NM_024570.4",
          "protein_id": "NP_078846.2",
          "transcript_support_level": null,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 312,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 939,
          "cdna_start": 326,
          "cdna_end": null,
          "cdna_length": 1513,
          "mane_select": "ENST00000336617.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "ENST00000336617.8",
          "protein_id": "ENSP00000337623.2",
          "transcript_support_level": 1,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 312,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 939,
          "cdna_start": 326,
          "cdna_end": null,
          "cdna_length": 1513,
          "mane_select": "NM_024570.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "ENST00000646960.1",
          "protein_id": "ENSP00000496481.1",
          "transcript_support_level": null,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 355,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 1068,
          "cdna_start": 336,
          "cdna_end": null,
          "cdna_length": 1711,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "ENST00000642721.1",
          "protein_id": "ENSP00000495650.1",
          "transcript_support_level": null,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 319,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 960,
          "cdna_start": 113,
          "cdna_end": null,
          "cdna_length": 1033,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "ENST00000713971.1",
          "protein_id": "ENSP00000519263.1",
          "transcript_support_level": null,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 319,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 960,
          "cdna_start": 72,
          "cdna_end": null,
          "cdna_length": 1278,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "ENST00000645188.1",
          "protein_id": "ENSP00000496224.1",
          "transcript_support_level": null,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 309,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 930,
          "cdna_start": 349,
          "cdna_end": null,
          "cdna_length": 1525,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "ENST00000643682.1",
          "protein_id": "ENSP00000493655.1",
          "transcript_support_level": null,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": 125,
          "cdna_end": null,
          "cdna_length": 1366,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "ENST00000616907.2",
          "protein_id": "ENSP00000482701.2",
          "transcript_support_level": 3,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": 110,
          "cdna_end": null,
          "cdna_length": 3410,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "ENST00000645955.1",
          "protein_id": "ENSP00000495755.1",
          "transcript_support_level": null,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": 199,
          "cdna_end": null,
          "cdna_length": 1829,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "ENST00000642995.1",
          "protein_id": "ENSP00000493499.1",
          "transcript_support_level": null,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 822,
          "cdna_start": 47,
          "cdna_end": null,
          "cdna_length": 922,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "NM_001411023.1",
          "protein_id": "NP_001397952.1",
          "transcript_support_level": null,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 266,
          "cds_start": 40,
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          "cds_length": 801,
          "cdna_start": 326,
          "cdna_end": null,
          "cdna_length": 1583,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 1,
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "ENST00000645990.1",
          "protein_id": "ENSP00000496571.1",
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        {
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          "exon_rank": 1,
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          "intron_rank": null,
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          "gene_symbol": "RNASEH2B",
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          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "NM_001142279.2",
          "protein_id": "NP_001135751.1",
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          "mane_select": null,
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        {
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          "strand": true,
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          ],
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "ENST00000422660.6",
          "protein_id": "ENSP00000389877.1",
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        },
        {
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        {
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          "intron_rank": null,
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          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "ENST00000713969.1",
          "protein_id": "ENSP00000519261.1",
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        {
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          "gene_symbol": "RNASEH2B",
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          "hgvs_c": "c.40C>A",
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          "transcript": "ENST00000644034.1",
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        {
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        {
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          "hgvs_c": "c.40C>A",
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        {
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          ],
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          "gene_symbol": "RNASEH2B",
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          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg",
          "transcript": "XM_011535231.3",
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "RNASEH2B",
          "gene_hgnc_id": 25671,
          "hgvs_c": "c.40C>A",
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      "dbsnp": "rs900876937",
      "frequency_reference_population": 0.000001530318,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 0.00000153032,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 2,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.4000000059604645,
      "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": -0.4,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.153,
      "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": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 3,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000336617.8",
          "gene_symbol": "RNASEH2B",
          "hgnc_id": 25671,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Arg"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000454605.5",
          "gene_symbol": "RNASEH2B-AS1",
          "hgnc_id": 39967,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.282+367G>T",
          "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
}