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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: 3-62399451-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=62399451&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 62399451,
      "ref": "G",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_001438347.1",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.4017C>A",
          "hgvs_p": "p.Gly1339Gly",
          "transcript": "NM_003716.4",
          "protein_id": "NP_003707.2",
          "transcript_support_level": null,
          "aa_start": 1339,
          "aa_end": null,
          "aa_length": 1353,
          "cds_start": 4017,
          "cds_end": null,
          "cds_length": 4062,
          "cdna_start": 4404,
          "cdna_end": null,
          "cdna_length": 5507,
          "mane_select": "ENST00000383710.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003716.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.4017C>A",
          "hgvs_p": "p.Gly1339Gly",
          "transcript": "ENST00000383710.9",
          "protein_id": "ENSP00000373215.4",
          "transcript_support_level": 1,
          "aa_start": 1339,
          "aa_end": null,
          "aa_length": 1353,
          "cds_start": 4017,
          "cds_end": null,
          "cds_length": 4062,
          "cdna_start": 4404,
          "cdna_end": null,
          "cdna_length": 5507,
          "mane_select": "NM_003716.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000383710.9"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3990C>A",
          "hgvs_p": "p.Gly1330Gly",
          "transcript": "ENST00000612439.4",
          "protein_id": "ENSP00000484365.1",
          "transcript_support_level": 1,
          "aa_start": 1330,
          "aa_end": null,
          "aa_length": 1344,
          "cds_start": 3990,
          "cds_end": null,
          "cds_length": 4035,
          "cdna_start": 4350,
          "cdna_end": null,
          "cdna_length": 5455,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000612439.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3900C>A",
          "hgvs_p": "p.Gly1300Gly",
          "transcript": "ENST00000283269.13",
          "protein_id": "ENSP00000283269.9",
          "transcript_support_level": 1,
          "aa_start": 1300,
          "aa_end": null,
          "aa_length": 1314,
          "cds_start": 3900,
          "cds_end": null,
          "cds_length": 3945,
          "cdna_start": 4112,
          "cdna_end": null,
          "cdna_length": 4591,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000283269.13"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3780C>A",
          "hgvs_p": "p.Gly1260Gly",
          "transcript": "ENST00000357948.7",
          "protein_id": "ENSP00000350632.3",
          "transcript_support_level": 1,
          "aa_start": 1260,
          "aa_end": null,
          "aa_length": 1274,
          "cds_start": 3780,
          "cds_end": null,
          "cds_length": 3825,
          "cdna_start": 4089,
          "cdna_end": null,
          "cdna_length": 5190,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357948.7"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.990C>A",
          "hgvs_p": "p.Gly330Gly",
          "transcript": "ENST00000473635.5",
          "protein_id": "ENSP00000418889.1",
          "transcript_support_level": 1,
          "aa_start": 330,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": 990,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": 992,
          "cdna_end": null,
          "cdna_length": 2095,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000473635.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.4077C>A",
          "hgvs_p": "p.Gly1359Gly",
          "transcript": "NM_001438347.1",
          "protein_id": "NP_001425276.1",
          "transcript_support_level": null,
          "aa_start": 1359,
          "aa_end": null,
          "aa_length": 1373,
          "cds_start": 4077,
          "cds_end": null,
          "cds_length": 4122,
          "cdna_start": 4464,
          "cdna_end": null,
          "cdna_length": 5567,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438347.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.4065C>A",
          "hgvs_p": "p.Gly1355Gly",
          "transcript": "NM_001438348.1",
          "protein_id": "NP_001425277.1",
          "transcript_support_level": null,
          "aa_start": 1355,
          "aa_end": null,
          "aa_length": 1369,
          "cds_start": 4065,
          "cds_end": null,
          "cds_length": 4110,
          "cdna_start": 4452,
          "cdna_end": null,
          "cdna_length": 5555,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438348.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.4029C>A",
          "hgvs_p": "p.Gly1343Gly",
          "transcript": "NM_001438349.1",
          "protein_id": "NP_001425278.1",
          "transcript_support_level": null,
          "aa_start": 1343,
          "aa_end": null,
          "aa_length": 1357,
          "cds_start": 4029,
          "cds_end": null,
          "cds_length": 4074,
          "cdna_start": 4416,
          "cdna_end": null,
          "cdna_length": 5519,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438349.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3996C>A",
          "hgvs_p": "p.Gly1332Gly",
          "transcript": "ENST00000951695.1",
          "protein_id": "ENSP00000621754.1",
          "transcript_support_level": null,
          "aa_start": 1332,
          "aa_end": null,
          "aa_length": 1346,
          "cds_start": 3996,
          "cds_end": null,
          "cds_length": 4041,
          "cdna_start": 4337,
          "cdna_end": null,
          "cdna_length": 5433,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951695.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3990C>A",
          "hgvs_p": "p.Gly1330Gly",
          "transcript": "NM_001437891.1",
          "protein_id": "NP_001424820.1",
          "transcript_support_level": null,
          "aa_start": 1330,
          "aa_end": null,
          "aa_length": 1344,
          "cds_start": 3990,
          "cds_end": null,
          "cds_length": 4035,
          "cdna_start": 4377,
          "cdna_end": null,
          "cdna_length": 5480,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001437891.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3918C>A",
          "hgvs_p": "p.Gly1306Gly",
          "transcript": "NM_001438350.1",
          "protein_id": "NP_001425279.1",
          "transcript_support_level": null,
          "aa_start": 1306,
          "aa_end": null,
          "aa_length": 1320,
          "cds_start": 3918,
          "cds_end": null,
          "cds_length": 3963,
          "cdna_start": 4305,
          "cdna_end": null,
          "cdna_length": 5408,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438350.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3918C>A",
          "hgvs_p": "p.Gly1306Gly",
          "transcript": "ENST00000951692.1",
          "protein_id": "ENSP00000621751.1",
          "transcript_support_level": null,
          "aa_start": 1306,
          "aa_end": null,
          "aa_length": 1320,
          "cds_start": 3918,
          "cds_end": null,
          "cds_length": 3963,
          "cdna_start": 4452,
          "cdna_end": null,
          "cdna_length": 5554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951692.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3915C>A",
          "hgvs_p": "p.Gly1305Gly",
          "transcript": "ENST00000951696.1",
          "protein_id": "ENSP00000621755.1",
          "transcript_support_level": null,
          "aa_start": 1305,
          "aa_end": null,
          "aa_length": 1319,
          "cds_start": 3915,
          "cds_end": null,
          "cds_length": 3960,
          "cdna_start": 4247,
          "cdna_end": null,
          "cdna_length": 5351,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000951696.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3900C>A",
          "hgvs_p": "p.Gly1300Gly",
          "transcript": "NM_183394.3",
          "protein_id": "NP_899631.1",
          "transcript_support_level": null,
          "aa_start": 1300,
          "aa_end": null,
          "aa_length": 1314,
          "cds_start": 3900,
          "cds_end": null,
          "cds_length": 3945,
          "cdna_start": 4287,
          "cdna_end": null,
          "cdna_length": 5390,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_183394.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3849C>A",
          "hgvs_p": "p.Gly1283Gly",
          "transcript": "NM_001438351.1",
          "protein_id": "NP_001425280.1",
          "transcript_support_level": null,
          "aa_start": 1283,
          "aa_end": null,
          "aa_length": 1297,
          "cds_start": 3849,
          "cds_end": null,
          "cds_length": 3894,
          "cdna_start": 4236,
          "cdna_end": null,
          "cdna_length": 5339,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438351.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3849C>A",
          "hgvs_p": "p.Gly1283Gly",
          "transcript": "ENST00000951693.1",
          "protein_id": "ENSP00000621752.1",
          "transcript_support_level": null,
          "aa_start": 1283,
          "aa_end": null,
          "aa_length": 1297,
          "cds_start": 3849,
          "cds_end": null,
          "cds_length": 3894,
          "cdna_start": 4215,
          "cdna_end": null,
          "cdna_length": 5312,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000951693.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3846C>A",
          "hgvs_p": "p.Gly1282Gly",
          "transcript": "ENST00000951694.1",
          "protein_id": "ENSP00000621753.1",
          "transcript_support_level": null,
          "aa_start": 1282,
          "aa_end": null,
          "aa_length": 1296,
          "cds_start": 3846,
          "cds_end": null,
          "cds_length": 3891,
          "cdna_start": 4206,
          "cdna_end": null,
          "cdna_length": 5307,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951694.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3831C>A",
          "hgvs_p": "p.Gly1277Gly",
          "transcript": "NM_001438352.1",
          "protein_id": "NP_001425281.1",
          "transcript_support_level": null,
          "aa_start": 1277,
          "aa_end": null,
          "aa_length": 1291,
          "cds_start": 3831,
          "cds_end": null,
          "cds_length": 3876,
          "cdna_start": 4218,
          "cdna_end": null,
          "cdna_length": 5321,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438352.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3831C>A",
          "hgvs_p": "p.Gly1277Gly",
          "transcript": "ENST00000935174.1",
          "protein_id": "ENSP00000605233.1",
          "transcript_support_level": null,
          "aa_start": 1277,
          "aa_end": null,
          "aa_length": 1291,
          "cds_start": 3831,
          "cds_end": null,
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          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "n.3272C>A",
          "hgvs_p": null,
          "transcript": "ENST00000474560.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 4371,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000474560.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "n.1930C>A",
          "hgvs_p": null,
          "transcript": "ENST00000486172.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 3033,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000486172.1"
        }
      ],
      "gene_symbol": "CADPS",
      "gene_hgnc_id": 1426,
      "dbsnp": "rs779869772",
      "frequency_reference_population": 0.00002664152,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 43,
      "gnomad_exomes_af": 0.000027363,
      "gnomad_genomes_af": 0.0000197119,
      "gnomad_exomes_ac": 40,
      "gnomad_genomes_ac": 3,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.20999999344348907,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.21,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.75,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -2.528,
      "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": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4,BP6,BP7",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 3,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4",
            "BP6",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001438347.1",
          "gene_symbol": "CADPS",
          "hgnc_id": 1426,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.4077C>A",
          "hgvs_p": "p.Gly1359Gly"
        }
      ],
      "clinvar_disease": "CADPS-related disorder",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "CADPS-related disorder",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}
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