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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: 16-89689495-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89689495&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 89689495,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_052988.5",
      "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": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "c.160+171A>C",
          "hgvs_p": null,
          "transcript": "NM_052988.5",
          "protein_id": "NP_443714.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 360,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1083,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1767,
          "mane_select": "ENST00000353379.12",
          "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": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "c.160+171A>C",
          "hgvs_p": null,
          "transcript": "ENST00000353379.12",
          "protein_id": "ENSP00000338673.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 360,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1083,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1767,
          "mane_select": "NM_052988.5",
          "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": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "c.-54+171A>C",
          "hgvs_p": null,
          "transcript": "ENST00000505473.5",
          "protein_id": "ENSP00000424415.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1424,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "c.88-1058A>C",
          "hgvs_p": null,
          "transcript": "ENST00000625631.1",
          "protein_id": "ENSP00000486594.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 42,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 129,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 140,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "c.20-1058A>C",
          "hgvs_p": null,
          "transcript": "ENST00000331006.12",
          "protein_id": "ENSP00000329957.8",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 313,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 942,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3344,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "c.-54+171A>C",
          "hgvs_p": null,
          "transcript": "NM_001160367.2",
          "protein_id": "NP_001153839.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1729,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "c.-54+171A>C",
          "hgvs_p": null,
          "transcript": "NM_001098533.3",
          "protein_id": "NP_001092003.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1711,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "c.-54+171A>C",
          "hgvs_p": null,
          "transcript": "NM_052987.4",
          "protein_id": "NP_443713.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1595,
          "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": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "c.-54+171A>C",
          "hgvs_p": null,
          "transcript": "ENST00000564192.5",
          "protein_id": "ENSP00000457055.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 238,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 717,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 897,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "n.86-1058A>C",
          "hgvs_p": null,
          "transcript": "ENST00000378277.8",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 576,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "n.171+171A>C",
          "hgvs_p": null,
          "transcript": "ENST00000472018.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 2532,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "n.*177+171A>C",
          "hgvs_p": null,
          "transcript": "ENST00000502547.5",
          "protein_id": "ENSP00000421597.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 551,
          "mane_select": null,
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        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "n.457+171A>C",
          "hgvs_p": null,
          "transcript": "ENST00000503560.1",
          "protein_id": null,
          "transcript_support_level": 5,
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          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 462,
          "mane_select": null,
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        },
        {
          "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": 6,
          "intron_rank": 1,
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          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "n.364-1058A>C",
          "hgvs_p": null,
          "transcript": "ENST00000504473.5",
          "protein_id": null,
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          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 910,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "n.181+171A>C",
          "hgvs_p": null,
          "transcript": "ENST00000505733.5",
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        {
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          "consequences": [
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          ],
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          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "n.123+189A>C",
          "hgvs_p": null,
          "transcript": "ENST00000507205.5",
          "protein_id": null,
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          "cdna_length": 1215,
          "mane_select": null,
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          "biotype": null,
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        },
        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "n.*220+171A>C",
          "hgvs_p": null,
          "transcript": "ENST00000508723.5",
          "protein_id": "ENSP00000423370.1",
          "transcript_support_level": 3,
          "aa_start": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "n.88-1058A>C",
          "hgvs_p": null,
          "transcript": "ENST00000510811.6",
          "protein_id": "ENSP00000455976.1",
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        {
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          ],
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          "gene_symbol": "CDK10",
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          "hgvs_c": "n.*51+171A>C",
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          "transcript": "ENST00000511415.5",
          "protein_id": "ENSP00000426102.1",
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        },
        {
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          ],
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "n.*105-1058A>C",
          "hgvs_p": null,
          "transcript": "ENST00000512912.5",
          "protein_id": "ENSP00000426264.1",
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CDK10",
          "gene_hgnc_id": 1770,
          "hgvs_c": "n.332+171A>C",
          "hgvs_p": null,
          "transcript": "ENST00000514965.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
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          "cdna_length": 474,
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          "biotype": null,
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        },
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          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "CDK10",
      "gene_hgnc_id": 1770,
      "dbsnp": "rs258322",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9100000262260437,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.05999999865889549,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.91,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.079,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.06,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_052988.5",
          "gene_symbol": "CDK10",
          "hgnc_id": 1770,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.160+171A>C",
          "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
}