← 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: 17-43877967-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43877967&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 43877967,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000461854.5",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1499G>A",
          "hgvs_p": "p.Arg500Gln",
          "transcript": "NM_005374.5",
          "protein_id": "NP_005365.4",
          "transcript_support_level": null,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": 1499,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": 1595,
          "cdna_end": null,
          "cdna_length": 4202,
          "mane_select": "ENST00000269095.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1499G>A",
          "hgvs_p": "p.Arg500Gln",
          "transcript": "ENST00000269095.9",
          "protein_id": "ENSP00000269095.4",
          "transcript_support_level": 1,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": 1499,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": 1595,
          "cdna_end": null,
          "cdna_length": 4202,
          "mane_select": "NM_005374.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1571G>A",
          "hgvs_p": "p.Arg524Gln",
          "transcript": "ENST00000461854.5",
          "protein_id": "ENSP00000428286.1",
          "transcript_support_level": 1,
          "aa_start": 524,
          "aa_end": null,
          "aa_length": 576,
          "cds_start": 1571,
          "cds_end": null,
          "cds_length": 1731,
          "cdna_start": 1657,
          "cdna_end": null,
          "cdna_length": 3462,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1550G>A",
          "hgvs_p": "p.Arg517Gln",
          "transcript": "ENST00000377184.7",
          "protein_id": "ENSP00000366389.3",
          "transcript_support_level": 1,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1550,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 1596,
          "cdna_end": null,
          "cdna_length": 4206,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1634G>A",
          "hgvs_p": "p.Arg545Gln",
          "transcript": "NM_001278370.2",
          "protein_id": "NP_001265299.1",
          "transcript_support_level": null,
          "aa_start": 545,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": 1634,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": 1702,
          "cdna_end": null,
          "cdna_length": 4309,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1634G>A",
          "hgvs_p": "p.Arg545Gln",
          "transcript": "ENST00000518766.5",
          "protein_id": "ENSP00000428182.1",
          "transcript_support_level": 2,
          "aa_start": 545,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": 1634,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": 1691,
          "cdna_end": null,
          "cdna_length": 1896,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1571G>A",
          "hgvs_p": "p.Arg524Gln",
          "transcript": "NM_001278372.2",
          "protein_id": "NP_001265301.1",
          "transcript_support_level": null,
          "aa_start": 524,
          "aa_end": null,
          "aa_length": 576,
          "cds_start": 1571,
          "cds_end": null,
          "cds_length": 1731,
          "cdna_start": 1667,
          "cdna_end": null,
          "cdna_length": 4274,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1550G>A",
          "hgvs_p": "p.Arg517Gln",
          "transcript": "NM_001278376.3",
          "protein_id": "NP_001265305.2",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1550,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 1622,
          "cdna_end": null,
          "cdna_length": 4229,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1499G>A",
          "hgvs_p": "p.Arg500Gln",
          "transcript": "NM_001278381.2",
          "protein_id": "NP_001265310.1",
          "transcript_support_level": null,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": 1499,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": 1928,
          "cdna_end": null,
          "cdna_length": 4535,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1499G>A",
          "hgvs_p": "p.Arg500Gln",
          "transcript": "ENST00000612133.4",
          "protein_id": "ENSP00000478528.1",
          "transcript_support_level": 5,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": 1499,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": 2334,
          "cdna_end": null,
          "cdna_length": 4938,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1466G>A",
          "hgvs_p": "p.Arg489Gln",
          "transcript": "NM_001278371.2",
          "protein_id": "NP_001265300.1",
          "transcript_support_level": null,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 541,
          "cds_start": 1466,
          "cds_end": null,
          "cds_length": 1626,
          "cdna_start": 1638,
          "cdna_end": null,
          "cdna_length": 4245,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1466G>A",
          "hgvs_p": "p.Arg489Gln",
          "transcript": "NM_001278373.2",
          "protein_id": "NP_001265302.1",
          "transcript_support_level": null,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 541,
          "cds_start": 1466,
          "cds_end": null,
          "cds_length": 1626,
          "cdna_start": 1531,
          "cdna_end": null,
          "cdna_length": 4138,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1466G>A",
          "hgvs_p": "p.Arg489Gln",
          "transcript": "NM_001278375.2",
          "protein_id": "NP_001265304.1",
          "transcript_support_level": null,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 541,
          "cds_start": 1466,
          "cds_end": null,
          "cds_length": 1626,
          "cdna_start": 1749,
          "cdna_end": null,
          "cdna_length": 4356,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1466G>A",
          "hgvs_p": "p.Arg489Gln",
          "transcript": "ENST00000523501.5",
          "protein_id": "ENSP00000430540.1",
          "transcript_support_level": 2,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 541,
          "cds_start": 1466,
          "cds_end": null,
          "cds_length": 1626,
          "cdna_start": 1531,
          "cdna_end": null,
          "cdna_length": 2121,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1466G>A",
          "hgvs_p": "p.Arg489Gln",
          "transcript": "ENST00000536246.5",
          "protein_id": "ENSP00000438012.1",
          "transcript_support_level": 2,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 541,
          "cds_start": 1466,
          "cds_end": null,
          "cds_length": 1626,
          "cdna_start": 1747,
          "cdna_end": null,
          "cdna_length": 4351,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1466G>A",
          "hgvs_p": "p.Arg489Gln",
          "transcript": "ENST00000622681.4",
          "protein_id": "ENSP00000480071.1",
          "transcript_support_level": 5,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 541,
          "cds_start": 1466,
          "cds_end": null,
          "cds_length": 1626,
          "cdna_start": 1638,
          "cdna_end": null,
          "cdna_length": 4242,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1082G>A",
          "hgvs_p": "p.Arg361Gln",
          "transcript": "NM_001278374.2",
          "protein_id": "NP_001265303.1",
          "transcript_support_level": null,
          "aa_start": 361,
          "aa_end": null,
          "aa_length": 413,
          "cds_start": 1082,
          "cds_end": null,
          "cds_length": 1242,
          "cdna_start": 1476,
          "cdna_end": null,
          "cdna_length": 4083,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1082G>A",
          "hgvs_p": "p.Arg361Gln",
          "transcript": "ENST00000520305.5",
          "protein_id": "ENSP00000428136.1",
          "transcript_support_level": 2,
          "aa_start": 361,
          "aa_end": null,
          "aa_length": 413,
          "cds_start": 1082,
          "cds_end": null,
          "cds_length": 1242,
          "cdna_start": 1476,
          "cdna_end": null,
          "cdna_length": 2111,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1733G>A",
          "hgvs_p": "p.Arg578Gln",
          "transcript": "XM_011524827.3",
          "protein_id": "XP_011523129.2",
          "transcript_support_level": null,
          "aa_start": 578,
          "aa_end": null,
          "aa_length": 630,
          "cds_start": 1733,
          "cds_end": null,
          "cds_length": 1893,
          "cdna_start": 1799,
          "cdna_end": null,
          "cdna_length": 4406,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1661G>A",
          "hgvs_p": "p.Arg554Gln",
          "transcript": "XM_024450760.2",
          "protein_id": "XP_024306528.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": 1661,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": 1721,
          "cdna_end": null,
          "cdna_length": 4328,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1499G>A",
          "hgvs_p": "p.Arg500Gln",
          "transcript": "XM_024450762.2",
          "protein_id": "XP_024306530.1",
          "transcript_support_level": null,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": 1499,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": 1856,
          "cdna_end": null,
          "cdna_length": 4463,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.1499G>A",
          "hgvs_p": "p.Arg500Gln",
          "transcript": "XM_024450763.2",
          "protein_id": "XP_024306531.1",
          "transcript_support_level": null,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": 1499,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": 2145,
          "cdna_end": null,
          "cdna_length": 4752,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MPP2",
          "gene_hgnc_id": 7220,
          "hgvs_c": "c.716G>A",
          "hgvs_p": "p.Arg239Gln",
          "transcript": "XM_047436096.1",
          "protein_id": "XP_047292052.1",
          "transcript_support_level": null,
          "aa_start": 239,
          "aa_end": null,
          "aa_length": 291,
          "cds_start": 716,
          "cds_end": null,
          "cds_length": 876,
          "cdna_start": 811,
          "cdna_end": null,
          "cdna_length": 3418,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "MPP2",
      "gene_hgnc_id": 7220,
      "dbsnp": "rs761519494",
      "frequency_reference_population": 0.000014257677,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 23,
      "gnomad_exomes_af": 0.0000130046,
      "gnomad_genomes_af": 0.0000262916,
      "gnomad_exomes_ac": 19,
      "gnomad_genomes_ac": 4,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.21008139848709106,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.073,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1711,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.47,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.806,
      "phylop100way_prediction": "Benign",
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000461854.5",
          "gene_symbol": "MPP2",
          "hgnc_id": 7220,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.1571G>A",
          "hgvs_p": "p.Arg524Gln"
        }
      ],
      "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
}