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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: 9-93289548-C-CG (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=93289548&ref=C&alt=CG&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 93289548,
      "ref": "C",
      "alt": "CG",
      "effect": "frameshift_variant",
      "transcript": "NM_001282394.3",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "NM_006648.4",
          "protein_id": "NP_006639.3",
          "transcript_support_level": null,
          "aa_start": 1601,
          "aa_end": null,
          "aa_length": 2217,
          "cds_start": 4802,
          "cds_end": null,
          "cds_length": 6654,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000427277.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006648.4"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "ENST00000427277.7",
          "protein_id": "ENSP00000411181.4",
          "transcript_support_level": 5,
          "aa_start": 1601,
          "aa_end": null,
          "aa_length": 2217,
          "cds_start": 4802,
          "cds_end": null,
          "cds_length": 6654,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006648.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000427277.7"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4912dupG",
          "hgvs_p": "p.Asp1638fs",
          "transcript": "ENST00000297954.9",
          "protein_id": "ENSP00000297954.4",
          "transcript_support_level": 1,
          "aa_start": 1638,
          "aa_end": null,
          "aa_length": 2297,
          "cds_start": 4913,
          "cds_end": null,
          "cds_length": 6894,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000297954.9"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "ENST00000432730.6",
          "protein_id": "ENSP00000415038.2",
          "transcript_support_level": 1,
          "aa_start": 1601,
          "aa_end": null,
          "aa_length": 2224,
          "cds_start": 4802,
          "cds_end": null,
          "cds_length": 6675,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000432730.6"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.3610dupG",
          "hgvs_p": "p.Asp1204fs",
          "transcript": "ENST00000411624.5",
          "protein_id": "ENSP00000414622.1",
          "transcript_support_level": 1,
          "aa_start": 1204,
          "aa_end": null,
          "aa_length": 1772,
          "cds_start": 3611,
          "cds_end": null,
          "cds_length": 5319,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000411624.5"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4912dupG",
          "hgvs_p": "p.Asp1638fs",
          "transcript": "NM_001282394.3",
          "protein_id": "NP_001269323.1",
          "transcript_support_level": null,
          "aa_start": 1638,
          "aa_end": null,
          "aa_length": 2297,
          "cds_start": 4913,
          "cds_end": null,
          "cds_length": 6894,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001282394.3"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "ENST00000395477.6",
          "protein_id": "ENSP00000378860.2",
          "transcript_support_level": 5,
          "aa_start": 1601,
          "aa_end": null,
          "aa_length": 2217,
          "cds_start": 4802,
          "cds_end": null,
          "cds_length": 6654,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000395477.6"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "ENST00000913011.1",
          "protein_id": "ENSP00000583070.1",
          "transcript_support_level": null,
          "aa_start": 1601,
          "aa_end": null,
          "aa_length": 2169,
          "cds_start": 4802,
          "cds_end": null,
          "cds_length": 6510,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913011.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "ENST00000913009.1",
          "protein_id": "ENSP00000583068.1",
          "transcript_support_level": null,
          "aa_start": 1601,
          "aa_end": null,
          "aa_length": 2105,
          "cds_start": 4802,
          "cds_end": null,
          "cds_length": 6318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913009.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "ENST00000913010.1",
          "protein_id": "ENSP00000583069.1",
          "transcript_support_level": null,
          "aa_start": 1601,
          "aa_end": null,
          "aa_length": 2104,
          "cds_start": 4802,
          "cds_end": null,
          "cds_length": 6315,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913010.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4798dupG",
          "hgvs_p": "p.Asp1600fs",
          "transcript": "ENST00000913012.1",
          "protein_id": "ENSP00000583071.1",
          "transcript_support_level": null,
          "aa_start": 1600,
          "aa_end": null,
          "aa_length": 2104,
          "cds_start": 4799,
          "cds_end": null,
          "cds_length": 6315,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913012.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4153dupG",
          "hgvs_p": "p.Asp1385fs",
          "transcript": "ENST00000913013.1",
          "protein_id": "ENSP00000583072.1",
          "transcript_support_level": null,
          "aa_start": 1385,
          "aa_end": null,
          "aa_length": 1871,
          "cds_start": 4154,
          "cds_end": null,
          "cds_length": 5616,
          "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": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.367dupG",
          "hgvs_p": "p.Asp123fs",
          "transcript": "ENST00000453718.2",
          "protein_id": "ENSP00000413325.1",
          "transcript_support_level": 5,
          "aa_start": 123,
          "aa_end": null,
          "aa_length": 644,
          "cds_start": 368,
          "cds_end": null,
          "cds_length": 1935,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000453718.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "XM_005252137.4",
          "protein_id": "XP_005252194.1",
          "transcript_support_level": null,
          "aa_start": 1601,
          "aa_end": null,
          "aa_length": 2260,
          "cds_start": 4802,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "D",
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 20,
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "XM_017015045.2",
          "protein_id": "XP_016870534.1",
          "transcript_support_level": null,
          "aa_start": 1601,
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          "cds_start": 4802,
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          "cds_length": 6780,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_017015045.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "XM_017015047.2",
          "protein_id": "XP_016870536.1",
          "transcript_support_level": null,
          "aa_start": 1601,
          "aa_end": null,
          "aa_length": 2242,
          "cds_start": 4802,
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          "cds_length": 6729,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "D",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "XM_017015048.2",
          "protein_id": "XP_016870537.1",
          "transcript_support_level": null,
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          "biotype": "protein_coding",
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        {
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          ],
          "exon_rank": 20,
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          "intron_rank": null,
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          "gene_symbol": "WNK2",
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          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "XM_017015049.2",
          "protein_id": "XP_016870538.1",
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          "cds_length": 6684,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "strand": true,
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          ],
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          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "XM_017015050.2",
          "protein_id": "XP_016870539.1",
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          "cds_start": 4802,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_017015050.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4801dupG",
          "hgvs_p": "p.Asp1601fs",
          "transcript": "XM_005252140.3",
          "protein_id": "XP_005252197.1",
          "transcript_support_level": null,
          "aa_start": 1601,
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          "cds_start": 4802,
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          "cds_length": 6675,
          "cdna_start": null,
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          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4731+70dupG",
          "hgvs_p": null,
          "transcript": "XM_047423771.1",
          "protein_id": "XP_047279727.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2059,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6180,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047423771.1"
        }
      ],
      "gene_symbol": "WNK2",
      "gene_hgnc_id": 14542,
      "dbsnp": "rs757473977",
      "frequency_reference_population": 0.0000042406905,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 6,
      "gnomad_exomes_af": 0.00000424069,
      "gnomad_genomes_af": 0.00000656685,
      "gnomad_exomes_ac": 6,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "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": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": -1.897,
      "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": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PP5_Moderate",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PP5_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001282394.3",
          "gene_symbol": "WNK2",
          "hgnc_id": 14542,
          "effects": [
            "frameshift_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.4912dupG",
          "hgvs_p": "p.Asp1638fs"
        }
      ],
      "clinvar_disease": "Inborn genetic diseases",
      "clinvar_classification": "Likely pathogenic",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LP:1",
      "phenotype_combined": "Inborn genetic diseases",
      "pathogenicity_classification_combined": "Likely pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}