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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: 14-96846143-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=96846143&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 96846143,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001411051.1",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "NM_003384.3",
          "protein_id": "NP_003375.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 396,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1191,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000216639.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003384.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000216639.8",
          "protein_id": "ENSP00000216639.3",
          "transcript_support_level": 1,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 396,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1191,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003384.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000216639.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000679770.1",
          "protein_id": "ENSP00000505214.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 448,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1347,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000679770.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000679462.1",
          "protein_id": "ENSP00000506011.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 437,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1314,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000679462.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000915477.1",
          "protein_id": "ENSP00000585536.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915477.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "NM_001411051.1",
          "protein_id": "NP_001397980.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001411051.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000553683.2",
          "protein_id": "ENSP00000451412.2",
          "transcript_support_level": 3,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000553683.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000679918.1",
          "protein_id": "ENSP00000505439.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000679918.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000680007.1",
          "protein_id": "ENSP00000505683.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000680007.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000915473.1",
          "protein_id": "ENSP00000585532.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 419,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1260,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915473.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000915475.1",
          "protein_id": "ENSP00000585534.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 418,
          "cds_start": 265,
          "cds_end": null,
          "cds_length": 1257,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915475.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000915476.1",
          "protein_id": "ENSP00000585535.1",
          "transcript_support_level": null,
          "aa_start": 89,
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          "cds_start": 265,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        {
          "aa_ref": "R",
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          "strand": true,
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          ],
          "exon_rank": 4,
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
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          "protein_id": "ENSP00000506334.1",
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          "cds_start": 265,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000915478.1",
          "protein_id": "ENSP00000585537.1",
          "transcript_support_level": null,
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          "cds_start": 265,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "gene_symbol": "VRK1",
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          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000679816.1",
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000679816.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000680756.1",
          "protein_id": "ENSP00000506648.1",
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          "cds_start": 265,
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          "cdna_start": null,
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        {
          "aa_ref": "R",
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          "strand": true,
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          ],
          "exon_rank": 4,
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          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000681344.1",
          "protein_id": "ENSP00000506151.1",
          "transcript_support_level": null,
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
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        {
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          "gene_symbol": "VRK1",
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg",
          "transcript": "ENST00000915479.1",
          "protein_id": "ENSP00000585538.1",
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          "aa_start": 89,
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          "biotype": "protein_coding",
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        },
        {
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "VRK1",
          "gene_hgnc_id": 12718,
          "hgvs_c": "n.217-6688C>A",
          "hgvs_p": null,
          "transcript": "ENST00000681695.1",
          "protein_id": "ENSP00000506225.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000681695.1"
        }
      ],
      "gene_symbol": "VRK1",
      "gene_hgnc_id": 12718,
      "dbsnp": "rs772263867",
      "frequency_reference_population": 6.8439897e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.84399e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.09000000357627869,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.09,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.921,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4,BP7",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4",
            "BP7"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001411051.1",
          "gene_symbol": "VRK1",
          "hgnc_id": 12718,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.265C>A",
          "hgvs_p": "p.Arg89Arg"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}