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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: 17-40264930-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40264930&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 40264930,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_133264.5",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "NM_133264.5",
          "protein_id": "NP_573571.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000323571.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_133264.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000323571.9",
          "protein_id": "ENSP00000320924.4",
          "transcript_support_level": 1,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_133264.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000323571.9"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000585043.5",
          "protein_id": "ENSP00000462826.1",
          "transcript_support_level": 1,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000585043.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "n.862C>T",
          "hgvs_p": null,
          "transcript": "ENST00000494757.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": "pseudogene",
          "feature": "ENST00000494757.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "n.*474C>T",
          "hgvs_p": null,
          "transcript": "ENST00000582781.5",
          "protein_id": "ENSP00000463869.1",
          "transcript_support_level": 1,
          "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": "ENST00000582781.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "n.*474C>T",
          "hgvs_p": null,
          "transcript": "ENST00000582781.5",
          "protein_id": "ENSP00000463869.1",
          "transcript_support_level": 1,
          "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": "ENST00000582781.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000583130.5",
          "protein_id": "ENSP00000462350.1",
          "transcript_support_level": 2,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000583130.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000863500.1",
          "protein_id": "ENSP00000533559.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863500.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000863503.1",
          "protein_id": "ENSP00000533562.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863503.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000863504.1",
          "protein_id": "ENSP00000533563.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863504.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000863505.1",
          "protein_id": "ENSP00000533564.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863505.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000863506.1",
          "protein_id": "ENSP00000533565.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863506.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000863507.1",
          "protein_id": "ENSP00000533566.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863507.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000863508.1",
          "protein_id": "ENSP00000533567.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863508.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000863509.1",
          "protein_id": "ENSP00000533568.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863509.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000922626.1",
          "protein_id": "ENSP00000592685.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000922626.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000922627.1",
          "protein_id": "ENSP00000592686.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000922627.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000951234.1",
          "protein_id": "ENSP00000621293.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951234.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000951235.1",
          "protein_id": "ENSP00000621294.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951235.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WIPF2",
          "gene_hgnc_id": 30923,
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser",
          "transcript": "ENST00000951236.1",
          "protein_id": "ENSP00000621295.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 754,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000583268.1"
        }
      ],
      "gene_symbol": "WIPF2",
      "gene_hgnc_id": 30923,
      "dbsnp": "rs765593329",
      "frequency_reference_population": 0.00004956261,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 80,
      "gnomad_exomes_af": 0.0000513033,
      "gnomad_genomes_af": 0.0000328459,
      "gnomad_exomes_ac": 75,
      "gnomad_genomes_ac": 5,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.4692966938018799,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.256,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.4445,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.25,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 6.861,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_133264.5",
          "gene_symbol": "WIPF2",
          "hgnc_id": 30923,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.754C>T",
          "hgvs_p": "p.Pro252Ser"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}