← 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: 1-248850460-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=248850460&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 248850460,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001136036.3",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1310G>A",
          "hgvs_p": "p.Arg437His",
          "transcript": "NM_017865.4",
          "protein_id": "NP_060335.2",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1310,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000306601.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_017865.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": true,
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1310G>A",
          "hgvs_p": "p.Arg437His",
          "transcript": "ENST00000306601.9",
          "protein_id": "ENSP00000305483.5",
          "transcript_support_level": 1,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1310,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_017865.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000306601.9"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1175G>A",
          "hgvs_p": "p.Arg392His",
          "transcript": "ENST00000366471.7",
          "protein_id": "ENSP00000355427.3",
          "transcript_support_level": 1,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": 1175,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000366471.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "n.*1555G>A",
          "hgvs_p": null,
          "transcript": "ENST00000463519.5",
          "protein_id": "ENSP00000436308.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000463519.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "n.1575G>A",
          "hgvs_p": null,
          "transcript": "ENST00000533927.5",
          "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": "ENST00000533927.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "n.*1555G>A",
          "hgvs_p": null,
          "transcript": "ENST00000463519.5",
          "protein_id": "ENSP00000436308.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000463519.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1325G>A",
          "hgvs_p": "p.Arg442His",
          "transcript": "NM_001136036.3",
          "protein_id": "NP_001129508.1",
          "transcript_support_level": null,
          "aa_start": 442,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": 1325,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001136036.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1325G>A",
          "hgvs_p": "p.Arg442His",
          "transcript": "ENST00000451251.5",
          "protein_id": "ENSP00000391200.1",
          "transcript_support_level": 2,
          "aa_start": 442,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": 1325,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000451251.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1310G>A",
          "hgvs_p": "p.Arg437His",
          "transcript": "ENST00000869877.1",
          "protein_id": "ENSP00000539936.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1310,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869877.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1310G>A",
          "hgvs_p": "p.Arg437His",
          "transcript": "ENST00000869881.1",
          "protein_id": "ENSP00000539940.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1310,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869881.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1310G>A",
          "hgvs_p": "p.Arg437His",
          "transcript": "ENST00000914628.1",
          "protein_id": "ENSP00000584687.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1310,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914628.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1310G>A",
          "hgvs_p": "p.Arg437His",
          "transcript": "ENST00000964809.1",
          "protein_id": "ENSP00000634868.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1310,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964809.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1307G>A",
          "hgvs_p": "p.Arg436His",
          "transcript": "NM_001350072.2",
          "protein_id": "NP_001337001.1",
          "transcript_support_level": null,
          "aa_start": 436,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 1307,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350072.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1307G>A",
          "hgvs_p": "p.Arg436His",
          "transcript": "ENST00000869878.1",
          "protein_id": "ENSP00000539937.1",
          "transcript_support_level": null,
          "aa_start": 436,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 1307,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869878.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1307G>A",
          "hgvs_p": "p.Arg436His",
          "transcript": "ENST00000964808.1",
          "protein_id": "ENSP00000634867.1",
          "transcript_support_level": null,
          "aa_start": 436,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 1307,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964808.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1274G>A",
          "hgvs_p": "p.Arg425His",
          "transcript": "ENST00000964812.1",
          "protein_id": "ENSP00000634871.1",
          "transcript_support_level": null,
          "aa_start": 425,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1274,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964812.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1271G>A",
          "hgvs_p": "p.Arg424His",
          "transcript": "ENST00000869880.1",
          "protein_id": "ENSP00000539939.1",
          "transcript_support_level": null,
          "aa_start": 424,
          "aa_end": null,
          "aa_length": 506,
          "cds_start": 1271,
          "cds_end": null,
          "cds_length": 1521,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869880.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1217G>A",
          "hgvs_p": "p.Arg406His",
          "transcript": "ENST00000964810.1",
          "protein_id": "ENSP00000634869.1",
          "transcript_support_level": null,
          "aa_start": 406,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": 1217,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964810.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1214G>A",
          "hgvs_p": "p.Arg405His",
          "transcript": "ENST00000964811.1",
          "protein_id": "ENSP00000634870.1",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": 1214,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964811.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1175G>A",
          "hgvs_p": "p.Arg392His",
          "transcript": "NM_001193328.2",
          "protein_id": "NP_001180257.1",
          "transcript_support_level": null,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": 1175,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001193328.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1175G>A",
          "hgvs_p": "p.Arg392His",
          "transcript": "ENST00000869876.1",
          "protein_id": "ENSP00000539935.1",
          "transcript_support_level": null,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": 1175,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869876.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1172G>A",
          "hgvs_p": "p.Arg391His",
          "transcript": "ENST00000869879.1",
          "protein_id": "ENSP00000539938.1",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 473,
          "cds_start": 1172,
          "cds_end": null,
          "cds_length": 1422,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869879.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1079G>A",
          "hgvs_p": "p.Arg360His",
          "transcript": "ENST00000914625.1",
          "protein_id": "ENSP00000584684.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": 1079,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914625.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1046G>A",
          "hgvs_p": "p.Arg349His",
          "transcript": "ENST00000914626.1",
          "protein_id": "ENSP00000584685.1",
          "transcript_support_level": null,
          "aa_start": 349,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": 1046,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914626.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.959G>A",
          "hgvs_p": "p.Arg320His",
          "transcript": "ENST00000914627.1",
          "protein_id": "ENSP00000584686.1",
          "transcript_support_level": null,
          "aa_start": 320,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": 959,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914627.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.698G>A",
          "hgvs_p": "p.Arg233His",
          "transcript": "NM_001350073.2",
          "protein_id": "NP_001337002.1",
          "transcript_support_level": null,
          "aa_start": 233,
          "aa_end": null,
          "aa_length": 315,
          "cds_start": 698,
          "cds_end": null,
          "cds_length": 948,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350073.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.569G>A",
          "hgvs_p": "p.Arg190His",
          "transcript": "ENST00000476503.5",
          "protein_id": "ENSP00000431582.1",
          "transcript_support_level": 3,
          "aa_start": 190,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": 569,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000476503.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1310G>A",
          "hgvs_p": "p.Arg437His",
          "transcript": "XM_011544222.2",
          "protein_id": "XP_011542524.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1310,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011544222.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1307G>A",
          "hgvs_p": "p.Arg436His",
          "transcript": "XM_017001698.2",
          "protein_id": "XP_016857187.1",
          "transcript_support_level": null,
          "aa_start": 436,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 1307,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017001698.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1232G>A",
          "hgvs_p": "p.Arg411His",
          "transcript": "XM_017001700.2",
          "protein_id": "XP_016857189.1",
          "transcript_support_level": null,
          "aa_start": 411,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": 1232,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017001700.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1232G>A",
          "hgvs_p": "p.Arg411His",
          "transcript": "XM_017001702.3",
          "protein_id": "XP_016857191.1",
          "transcript_support_level": null,
          "aa_start": 411,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": 1232,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017001702.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1229G>A",
          "hgvs_p": "p.Arg410His",
          "transcript": "XM_011544227.2",
          "protein_id": "XP_011542529.1",
          "transcript_support_level": null,
          "aa_start": 410,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": 1229,
          "cds_end": null,
          "cds_length": 1479,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011544227.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1229G>A",
          "hgvs_p": "p.Arg410His",
          "transcript": "XM_047424586.1",
          "protein_id": "XP_047280542.1",
          "transcript_support_level": null,
          "aa_start": 410,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": 1229,
          "cds_end": null,
          "cds_length": 1479,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047424586.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1217G>A",
          "hgvs_p": "p.Arg406His",
          "transcript": "XM_047424581.1",
          "protein_id": "XP_047280537.1",
          "transcript_support_level": null,
          "aa_start": 406,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": 1217,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047424581.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.1175G>A",
          "hgvs_p": "p.Arg392His",
          "transcript": "XM_047424596.1",
          "protein_id": "XP_047280552.1",
          "transcript_support_level": null,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": 1175,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047424596.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.698G>A",
          "hgvs_p": "p.Arg233His",
          "transcript": "XM_011544220.3",
          "protein_id": "XP_011542522.2",
          "transcript_support_level": null,
          "aa_start": 233,
          "aa_end": null,
          "aa_length": 315,
          "cds_start": 698,
          "cds_end": null,
          "cds_length": 948,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011544220.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.698G>A",
          "hgvs_p": "p.Arg233His",
          "transcript": "XM_024448274.2",
          "protein_id": "XP_024304042.1",
          "transcript_support_level": null,
          "aa_start": 233,
          "aa_end": null,
          "aa_length": 315,
          "cds_start": 698,
          "cds_end": null,
          "cds_length": 948,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024448274.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.698G>A",
          "hgvs_p": "p.Arg233His",
          "transcript": "XM_047424599.1",
          "protein_id": "XP_047280555.1",
          "transcript_support_level": null,
          "aa_start": 233,
          "aa_end": null,
          "aa_length": 315,
          "cds_start": 698,
          "cds_end": null,
          "cds_length": 948,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047424599.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.698G>A",
          "hgvs_p": "p.Arg233His",
          "transcript": "XM_047424603.1",
          "protein_id": "XP_047280559.1",
          "transcript_support_level": null,
          "aa_start": 233,
          "aa_end": null,
          "aa_length": 315,
          "cds_start": 698,
          "cds_end": null,
          "cds_length": 948,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047424603.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "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": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.695G>A",
          "hgvs_p": "p.Arg232His",
          "transcript": "XM_011544221.3",
          "protein_id": "XP_011542523.2",
          "transcript_support_level": null,
          "aa_start": 232,
          "aa_end": null,
          "aa_length": 314,
          "cds_start": 695,
          "cds_end": null,
          "cds_length": 945,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011544221.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.620G>A",
          "hgvs_p": "p.Arg207His",
          "transcript": "XM_017001699.3",
          "protein_id": "XP_016857188.2",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 620,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017001699.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "n.*1020G>A",
          "hgvs_p": null,
          "transcript": "ENST00000412341.6",
          "protein_id": "ENSP00000393552.2",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000412341.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "n.744G>A",
          "hgvs_p": null,
          "transcript": "ENST00000462037.6",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000462037.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "n.1366G>A",
          "hgvs_p": null,
          "transcript": "ENST00000470787.6",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000470787.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "n.791G>A",
          "hgvs_p": null,
          "transcript": "ENST00000474351.5",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000474351.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "n.*609G>A",
          "hgvs_p": null,
          "transcript": "ENST00000477070.6",
          "protein_id": "ENSP00000436814.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000477070.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "n.*198G>A",
          "hgvs_p": null,
          "transcript": "ENST00000482023.5",
          "protein_id": "ENSP00000433522.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000482023.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "n.*1020G>A",
          "hgvs_p": null,
          "transcript": "ENST00000412341.6",
          "protein_id": "ENSP00000393552.2",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000412341.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "n.*609G>A",
          "hgvs_p": null,
          "transcript": "ENST00000477070.6",
          "protein_id": "ENSP00000436814.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000477070.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "n.*198G>A",
          "hgvs_p": null,
          "transcript": "ENST00000482023.5",
          "protein_id": "ENSP00000433522.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000482023.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF692",
          "gene_hgnc_id": 26049,
          "hgvs_c": "c.*363G>A",
          "hgvs_p": null,
          "transcript": "XM_047424583.1",
          "protein_id": "XP_047280539.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 194,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 585,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047424583.1"
        }
      ],
      "gene_symbol": "ZNF692",
      "gene_hgnc_id": 26049,
      "dbsnp": "rs749077817",
      "frequency_reference_population": 0.000027893311,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 45,
      "gnomad_exomes_af": 0.0000301155,
      "gnomad_genomes_af": 0.00000656832,
      "gnomad_exomes_ac": 44,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.2811787724494934,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.217,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.565,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.38,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.322,
      "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": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001136036.3",
          "gene_symbol": "ZNF692",
          "hgnc_id": 26049,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1325G>A",
          "hgvs_p": "p.Arg442His"
        }
      ],
      "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
}