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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: 19-42290242-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42290242&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 42290242,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000681038.1",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg",
          "transcript": "NM_001386298.1",
          "protein_id": "NP_001373227.1",
          "transcript_support_level": null,
          "aa_start": 1401,
          "aa_end": null,
          "aa_length": 2517,
          "cds_start": 4201,
          "cds_end": null,
          "cds_length": 7554,
          "cdna_start": 4341,
          "cdna_end": null,
          "cdna_length": 8299,
          "mane_select": "ENST00000681038.1",
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg",
          "transcript": "ENST00000681038.1",
          "protein_id": "ENSP00000505728.1",
          "transcript_support_level": null,
          "aa_start": 1401,
          "aa_end": null,
          "aa_length": 2517,
          "cds_start": 4201,
          "cds_end": null,
          "cds_length": 7554,
          "cdna_start": 4341,
          "cdna_end": null,
          "cdna_length": 8299,
          "mane_select": "NM_001386298.1",
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.1474C>A",
          "hgvs_p": "p.Arg492Arg",
          "transcript": "ENST00000575354.6",
          "protein_id": "ENSP00000458663.2",
          "transcript_support_level": 1,
          "aa_start": 492,
          "aa_end": null,
          "aa_length": 1608,
          "cds_start": 1474,
          "cds_end": null,
          "cds_length": 4827,
          "cdna_start": 1514,
          "cdna_end": null,
          "cdna_length": 5473,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg",
          "transcript": "NM_001304815.2",
          "protein_id": "NP_001291744.1",
          "transcript_support_level": null,
          "aa_start": 1401,
          "aa_end": null,
          "aa_length": 2517,
          "cds_start": 4201,
          "cds_end": null,
          "cds_length": 7554,
          "cdna_start": 4276,
          "cdna_end": null,
          "cdna_length": 8234,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg",
          "transcript": "NM_001379480.1",
          "protein_id": "NP_001366409.1",
          "transcript_support_level": null,
          "aa_start": 1401,
          "aa_end": null,
          "aa_length": 2516,
          "cds_start": 4201,
          "cds_end": null,
          "cds_length": 7551,
          "cdna_start": 4341,
          "cdna_end": null,
          "cdna_length": 8296,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg",
          "transcript": "NM_001379482.1",
          "protein_id": "NP_001366411.1",
          "transcript_support_level": null,
          "aa_start": 1401,
          "aa_end": null,
          "aa_length": 2516,
          "cds_start": 4201,
          "cds_end": null,
          "cds_length": 7551,
          "cdna_start": 4341,
          "cdna_end": null,
          "cdna_length": 8296,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg",
          "transcript": "NM_001439183.1",
          "protein_id": "NP_001426112.1",
          "transcript_support_level": null,
          "aa_start": 1401,
          "aa_end": null,
          "aa_length": 2516,
          "cds_start": 4201,
          "cds_end": null,
          "cds_length": 7551,
          "cdna_start": 4276,
          "cdna_end": null,
          "cdna_length": 8231,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg",
          "transcript": "NM_001439184.1",
          "protein_id": "NP_001426113.1",
          "transcript_support_level": null,
          "aa_start": 1401,
          "aa_end": null,
          "aa_length": 2515,
          "cds_start": 4201,
          "cds_end": null,
          "cds_length": 7548,
          "cdna_start": 4341,
          "cdna_end": null,
          "cdna_length": 8293,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg",
          "transcript": "NM_001439185.1",
          "protein_id": "NP_001426114.1",
          "transcript_support_level": null,
          "aa_start": 1401,
          "aa_end": null,
          "aa_length": 2515,
          "cds_start": 4201,
          "cds_end": null,
          "cds_length": 7548,
          "cdna_start": 4276,
          "cdna_end": null,
          "cdna_length": 8228,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg",
          "transcript": "NM_001439186.1",
          "protein_id": "NP_001426115.1",
          "transcript_support_level": null,
          "aa_start": 1401,
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          "cds_start": 4201,
          "cds_end": null,
          "cds_length": 7548,
          "cdna_start": 4276,
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          "mane_select": null,
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        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg",
          "transcript": "NM_001439187.1",
          "protein_id": "NP_001426116.1",
          "transcript_support_level": null,
          "aa_start": 1401,
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          "cds_start": 4201,
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          "cds_length": 7545,
          "cdna_start": 4276,
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          "cdna_length": 8225,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "CIC",
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          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg",
          "transcript": "ENST00000572681.6",
          "protein_id": "ENSP00000459719.1",
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        {
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          "strand": true,
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          ],
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          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg",
          "transcript": "NM_001439188.1",
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        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 10,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.1474C>A",
          "hgvs_p": "p.Arg492Arg",
          "transcript": "NM_015125.5",
          "protein_id": "NP_055940.3",
          "transcript_support_level": null,
          "aa_start": 492,
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          "cds_start": 1474,
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        },
        {
          "aa_ref": "R",
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          "gene_symbol": "CIC",
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          "hgvs_c": "c.1474C>A",
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        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 10,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.1474C>A",
          "hgvs_p": "p.Arg492Arg",
          "transcript": "NM_001439190.1",
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.1474C>A",
          "hgvs_p": "p.Arg492Arg",
          "transcript": "NM_001379484.1",
          "protein_id": "NP_001366413.1",
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        {
          "aa_ref": "R",
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          "gene_symbol": "CIC",
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        {
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          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.1474C>A",
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        {
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          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "c.1474C>A",
          "hgvs_p": "p.Arg492Arg",
          "transcript": "NM_001379485.1",
          "protein_id": "NP_001366414.1",
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          "feature": null
        },
        {
          "aa_ref": "R",
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CIC",
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          "cds_length": 4362,
          "cdna_start": 2937,
          "cdna_end": null,
          "cdna_length": 6895,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIC",
          "gene_hgnc_id": 14214,
          "hgvs_c": "n.3284C>A",
          "hgvs_p": null,
          "transcript": "ENST00000684265.1",
          "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": 7239,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "CIC",
      "gene_hgnc_id": 14214,
      "dbsnp": "rs373584239",
      "frequency_reference_population": 0.000004336911,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 7,
      "gnomad_exomes_af": 0.00000273627,
      "gnomad_genomes_af": 0.0000197101,
      "gnomad_exomes_ac": 4,
      "gnomad_genomes_ac": 3,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.33000001311302185,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.33,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.073,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "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": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 3,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000681038.1",
          "gene_symbol": "CIC",
          "hgnc_id": 14214,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.4201C>A",
          "hgvs_p": "p.Arg1401Arg"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}