← 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: 6-35424654-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35424654&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 35424654,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_006238.5",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "NM_006238.5",
          "protein_id": "NP_006229.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1262,
          "cdna_end": null,
          "cdna_length": 3734,
          "mane_select": "ENST00000360694.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "ENST00000360694.8",
          "protein_id": "ENSP00000353916.3",
          "transcript_support_level": 2,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1262,
          "cdna_end": null,
          "cdna_length": 3734,
          "mane_select": "NM_006238.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "NM_001171818.2",
          "protein_id": "NP_001165289.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1358,
          "cdna_end": null,
          "cdna_length": 3830,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "ENST00000311565.4",
          "protein_id": "ENSP00000310928.4",
          "transcript_support_level": 5,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1302,
          "cdna_end": null,
          "cdna_length": 3774,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.836G>A",
          "hgvs_p": "p.Arg279His",
          "transcript": "NM_001171819.2",
          "protein_id": "NP_001165290.1",
          "transcript_support_level": null,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": 836,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": 1031,
          "cdna_end": null,
          "cdna_length": 3503,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.836G>A",
          "hgvs_p": "p.Arg279His",
          "transcript": "ENST00000448077.6",
          "protein_id": "ENSP00000414372.2",
          "transcript_support_level": 2,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": 836,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": 1031,
          "cdna_end": null,
          "cdna_length": 3516,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "NM_177435.3",
          "protein_id": "NP_803184.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": 1262,
          "cdna_end": null,
          "cdna_length": 2008,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "ENST00000337400.6",
          "protein_id": "ENSP00000337063.2",
          "transcript_support_level": 5,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": 1302,
          "cdna_end": null,
          "cdna_length": 2041,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.659G>A",
          "hgvs_p": "p.Arg220His",
          "transcript": "NM_001171820.2",
          "protein_id": "NP_001165291.1",
          "transcript_support_level": null,
          "aa_start": 220,
          "aa_end": null,
          "aa_length": 343,
          "cds_start": 659,
          "cds_end": null,
          "cds_length": 1032,
          "cdna_start": 968,
          "cdna_end": null,
          "cdna_length": 3440,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.659G>A",
          "hgvs_p": "p.Arg220His",
          "transcript": "ENST00000418635.6",
          "protein_id": "ENSP00000413314.2",
          "transcript_support_level": 2,
          "aa_start": 220,
          "aa_end": null,
          "aa_length": 343,
          "cds_start": 659,
          "cds_end": null,
          "cds_length": 1032,
          "cdna_start": 968,
          "cdna_end": null,
          "cdna_length": 3453,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_005249193.2",
          "protein_id": "XP_005249250.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1290,
          "cdna_end": null,
          "cdna_length": 3762,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_006715123.2",
          "protein_id": "XP_006715186.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1178,
          "cdna_end": null,
          "cdna_length": 3650,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_011514707.2",
          "protein_id": "XP_011513009.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 2025,
          "cdna_end": null,
          "cdna_length": 4497,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_011514710.2",
          "protein_id": "XP_011513012.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1352,
          "cdna_end": null,
          "cdna_length": 3824,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_017010973.2",
          "protein_id": "XP_016866462.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1487,
          "cdna_end": null,
          "cdna_length": 3959,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_017010974.2",
          "protein_id": "XP_016866463.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1412,
          "cdna_end": null,
          "cdna_length": 3884,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418915.1",
          "protein_id": "XP_047274871.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1654,
          "cdna_end": null,
          "cdna_length": 4126,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418916.1",
          "protein_id": "XP_047274872.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1384,
          "cdna_end": null,
          "cdna_length": 3856,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418917.1",
          "protein_id": "XP_047274873.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1590,
          "cdna_end": null,
          "cdna_length": 4062,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418918.1",
          "protein_id": "XP_047274874.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1430,
          "cdna_end": null,
          "cdna_length": 3902,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418919.1",
          "protein_id": "XP_047274875.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 2274,
          "cdna_end": null,
          "cdna_length": 4746,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418920.1",
          "protein_id": "XP_047274876.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 2128,
          "cdna_end": null,
          "cdna_length": 4600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418921.1",
          "protein_id": "XP_047274877.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 2114,
          "cdna_end": null,
          "cdna_length": 4586,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418922.1",
          "protein_id": "XP_047274878.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 2399,
          "cdna_end": null,
          "cdna_length": 4871,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418923.1",
          "protein_id": "XP_047274879.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 2277,
          "cdna_end": null,
          "cdna_length": 4749,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418924.1",
          "protein_id": "XP_047274880.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1806,
          "cdna_end": null,
          "cdna_length": 4278,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418925.1",
          "protein_id": "XP_047274881.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1377,
          "cdna_end": null,
          "cdna_length": 3849,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418926.1",
          "protein_id": "XP_047274882.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1220,
          "cdna_end": null,
          "cdna_length": 3692,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418927.1",
          "protein_id": "XP_047274883.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 4438,
          "cdna_end": null,
          "cdna_length": 6910,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418928.1",
          "protein_id": "XP_047274884.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1349,
          "cdna_end": null,
          "cdna_length": 3821,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418929.1",
          "protein_id": "XP_047274885.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 2250,
          "cdna_end": null,
          "cdna_length": 4722,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418930.1",
          "protein_id": "XP_047274886.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1999,
          "cdna_end": null,
          "cdna_length": 4471,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418931.1",
          "protein_id": "XP_047274887.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1127,
          "cdna_end": null,
          "cdna_length": 3599,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_024446474.2",
          "protein_id": "XP_024302242.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": 1220,
          "cdna_end": null,
          "cdna_length": 3576,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418932.1",
          "protein_id": "XP_047274888.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": 1262,
          "cdna_end": null,
          "cdna_length": 3618,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418933.1",
          "protein_id": "XP_047274889.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": 1358,
          "cdna_end": null,
          "cdna_length": 3714,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418934.1",
          "protein_id": "XP_047274890.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": 1903,
          "cdna_end": null,
          "cdna_length": 4259,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418935.1",
          "protein_id": "XP_047274891.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": 2025,
          "cdna_end": null,
          "cdna_length": 4381,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418936.1",
          "protein_id": "XP_047274892.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": 1178,
          "cdna_end": null,
          "cdna_length": 3534,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His",
          "transcript": "XM_047418937.1",
          "protein_id": "XP_047274893.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": 4438,
          "cdna_end": null,
          "cdna_length": 6794,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "PPARD",
      "gene_hgnc_id": 9235,
      "dbsnp": "rs756560599",
      "frequency_reference_population": 0.000008208709,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 12,
      "gnomad_exomes_af": 0.00000820871,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 12,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6646101474761963,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.029999999329447746,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.731,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.2663,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.28,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 6.954,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.03,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BS2",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BS2"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_006238.5",
          "gene_symbol": "PPARD",
          "hgnc_id": 9235,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.953G>A",
          "hgvs_p": "p.Arg318His"
        }
      ],
      "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
}