← Back to variant description

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: 8-86411867-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=86411867&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 86411867,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_007013.4",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "NM_007013.4",
          "protein_id": "NP_008944.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 922,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000517970.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_007013.4"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "ENST00000517970.6",
          "protein_id": "ENSP00000427793.1",
          "transcript_support_level": 1,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 922,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_007013.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000517970.6"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "ENST00000265428.4",
          "protein_id": "ENSP00000265428.4",
          "transcript_support_level": 1,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 922,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000265428.4"
        },
        {
          "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": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "n.708C>A",
          "hgvs_p": null,
          "transcript": "ENST00000518683.5",
          "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": "retained_intron",
          "feature": "ENST00000518683.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "ENST00000882789.1",
          "protein_id": "ENSP00000552848.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 944,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2835,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882789.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "ENST00000942574.1",
          "protein_id": "ENSP00000612633.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 944,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2835,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942574.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1078C>A",
          "hgvs_p": "p.Pro360Thr",
          "transcript": "ENST00000942573.1",
          "protein_id": "ENSP00000612632.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 930,
          "cds_start": 1078,
          "cds_end": null,
          "cds_length": 2793,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942573.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "ENST00000942578.1",
          "protein_id": "ENSP00000612637.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 927,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2784,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942578.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1051C>A",
          "hgvs_p": "p.Pro351Thr",
          "transcript": "ENST00000882781.1",
          "protein_id": "ENSP00000552840.1",
          "transcript_support_level": null,
          "aa_start": 351,
          "aa_end": null,
          "aa_length": 921,
          "cds_start": 1051,
          "cds_end": null,
          "cds_length": 2766,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882781.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1051C>A",
          "hgvs_p": "p.Pro351Thr",
          "transcript": "ENST00000882783.1",
          "protein_id": "ENSP00000552842.1",
          "transcript_support_level": null,
          "aa_start": 351,
          "aa_end": null,
          "aa_length": 921,
          "cds_start": 1051,
          "cds_end": null,
          "cds_length": 2766,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882783.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1051C>A",
          "hgvs_p": "p.Pro351Thr",
          "transcript": "ENST00000942571.1",
          "protein_id": "ENSP00000612630.1",
          "transcript_support_level": null,
          "aa_start": 351,
          "aa_end": null,
          "aa_length": 921,
          "cds_start": 1051,
          "cds_end": null,
          "cds_length": 2766,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942571.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1078C>A",
          "hgvs_p": "p.Pro360Thr",
          "transcript": "ENST00000942576.1",
          "protein_id": "ENSP00000612635.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 1078,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942576.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "ENST00000882788.1",
          "protein_id": "ENSP00000552847.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 900,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2703,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882788.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "ENST00000882780.1",
          "protein_id": "ENSP00000552839.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882780.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "ENST00000942569.1",
          "protein_id": "ENSP00000612628.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942569.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1051C>A",
          "hgvs_p": "p.Pro351Thr",
          "transcript": "ENST00000882790.1",
          "protein_id": "ENSP00000552849.1",
          "transcript_support_level": null,
          "aa_start": 351,
          "aa_end": null,
          "aa_length": 897,
          "cds_start": 1051,
          "cds_end": null,
          "cds_length": 2694,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882790.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1051C>A",
          "hgvs_p": "p.Pro351Thr",
          "transcript": "ENST00000942575.1",
          "protein_id": "ENSP00000612634.1",
          "transcript_support_level": null,
          "aa_start": 351,
          "aa_end": null,
          "aa_length": 897,
          "cds_start": 1051,
          "cds_end": null,
          "cds_length": 2694,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942575.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.916C>A",
          "hgvs_p": "p.Pro306Thr",
          "transcript": "ENST00000882782.1",
          "protein_id": "ENSP00000552841.1",
          "transcript_support_level": null,
          "aa_start": 306,
          "aa_end": null,
          "aa_length": 876,
          "cds_start": 916,
          "cds_end": null,
          "cds_length": 2631,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882782.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.916C>A",
          "hgvs_p": "p.Pro306Thr",
          "transcript": "ENST00000882786.1",
          "protein_id": "ENSP00000552845.1",
          "transcript_support_level": null,
          "aa_start": 306,
          "aa_end": null,
          "aa_length": 876,
          "cds_start": 916,
          "cds_end": null,
          "cds_length": 2631,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882786.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.874C>A",
          "hgvs_p": "p.Pro292Thr",
          "transcript": "ENST00000882784.1",
          "protein_id": "ENSP00000552843.1",
          "transcript_support_level": null,
          "aa_start": 292,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 874,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882784.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.865C>A",
          "hgvs_p": "p.Pro289Thr",
          "transcript": "ENST00000942580.1",
          "protein_id": "ENSP00000612639.1",
          "transcript_support_level": null,
          "aa_start": 289,
          "aa_end": null,
          "aa_length": 859,
          "cds_start": 865,
          "cds_end": null,
          "cds_length": 2580,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942580.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.916C>A",
          "hgvs_p": "p.Pro306Thr",
          "transcript": "ENST00000942572.1",
          "protein_id": "ENSP00000612631.1",
          "transcript_support_level": null,
          "aa_start": 306,
          "aa_end": null,
          "aa_length": 852,
          "cds_start": 916,
          "cds_end": null,
          "cds_length": 2559,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942572.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "ENST00000882792.1",
          "protein_id": "ENSP00000552851.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 843,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2532,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882792.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "ENST00000942570.1",
          "protein_id": "ENSP00000612629.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 843,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2532,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942570.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1051C>A",
          "hgvs_p": "p.Pro351Thr",
          "transcript": "ENST00000882791.1",
          "protein_id": "ENSP00000552850.1",
          "transcript_support_level": null,
          "aa_start": 351,
          "aa_end": null,
          "aa_length": 842,
          "cds_start": 1051,
          "cds_end": null,
          "cds_length": 2529,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882791.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.790C>A",
          "hgvs_p": "p.Pro264Thr",
          "transcript": "ENST00000882787.1",
          "protein_id": "ENSP00000552846.1",
          "transcript_support_level": null,
          "aa_start": 264,
          "aa_end": null,
          "aa_length": 834,
          "cds_start": 790,
          "cds_end": null,
          "cds_length": 2505,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882787.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.724C>A",
          "hgvs_p": "p.Pro242Thr",
          "transcript": "ENST00000942579.1",
          "protein_id": "ENSP00000612638.1",
          "transcript_support_level": null,
          "aa_start": 242,
          "aa_end": null,
          "aa_length": 812,
          "cds_start": 724,
          "cds_end": null,
          "cds_length": 2439,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942579.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.664C>A",
          "hgvs_p": "p.Pro222Thr",
          "transcript": "ENST00000882785.1",
          "protein_id": "ENSP00000552844.1",
          "transcript_support_level": null,
          "aa_start": 222,
          "aa_end": null,
          "aa_length": 792,
          "cds_start": 664,
          "cds_end": null,
          "cds_length": 2379,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882785.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.664C>A",
          "hgvs_p": "p.Pro222Thr",
          "transcript": "ENST00000942577.1",
          "protein_id": "ENSP00000612636.1",
          "transcript_support_level": null,
          "aa_start": 222,
          "aa_end": null,
          "aa_length": 792,
          "cds_start": 664,
          "cds_end": null,
          "cds_length": 2379,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942577.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "XM_005250760.5",
          "protein_id": "XP_005250817.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 922,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005250760.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1051C>A",
          "hgvs_p": "p.Pro351Thr",
          "transcript": "XM_005250761.5",
          "protein_id": "XP_005250818.1",
          "transcript_support_level": null,
          "aa_start": 351,
          "aa_end": null,
          "aa_length": 921,
          "cds_start": 1051,
          "cds_end": null,
          "cds_length": 2766,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005250761.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1051C>A",
          "hgvs_p": "p.Pro351Thr",
          "transcript": "XM_017012993.2",
          "protein_id": "XP_016868482.1",
          "transcript_support_level": null,
          "aa_start": 351,
          "aa_end": null,
          "aa_length": 921,
          "cds_start": 1051,
          "cds_end": null,
          "cds_length": 2766,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017012993.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "XM_017012994.3",
          "protein_id": "XP_016868483.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017012994.3"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "XM_024447056.2",
          "protein_id": "XP_024302824.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024447056.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1051C>A",
          "hgvs_p": "p.Pro351Thr",
          "transcript": "XM_047421282.1",
          "protein_id": "XP_047277238.1",
          "transcript_support_level": null,
          "aa_start": 351,
          "aa_end": null,
          "aa_length": 897,
          "cds_start": 1051,
          "cds_end": null,
          "cds_length": 2694,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047421282.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1051C>A",
          "hgvs_p": "p.Pro351Thr",
          "transcript": "XM_047421283.1",
          "protein_id": "XP_047277239.1",
          "transcript_support_level": null,
          "aa_start": 351,
          "aa_end": null,
          "aa_length": 897,
          "cds_start": 1051,
          "cds_end": null,
          "cds_length": 2694,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047421283.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.517C>A",
          "hgvs_p": "p.Pro173Thr",
          "transcript": "XM_047421284.1",
          "protein_id": "XP_047277240.1",
          "transcript_support_level": null,
          "aa_start": 173,
          "aa_end": null,
          "aa_length": 743,
          "cds_start": 517,
          "cds_end": null,
          "cds_length": 2232,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047421284.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr",
          "transcript": "XM_047421285.1",
          "protein_id": "XP_047277241.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047421285.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WWP1",
          "gene_hgnc_id": 17004,
          "hgvs_c": "n.396C>A",
          "hgvs_p": null,
          "transcript": "ENST00000520374.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": "ENST00000520374.5"
        }
      ],
      "gene_symbol": "WWP1",
      "gene_hgnc_id": 17004,
      "dbsnp": null,
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.9072300791740417,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.664,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.5528,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.33,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 4.84,
      "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": 4,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3_Moderate",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_007013.4",
          "gene_symbol": "WWP1",
          "hgnc_id": 17004,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1054C>A",
          "hgvs_p": "p.Pro352Thr"
        }
      ],
      "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
}