← Back to variant description

GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 17-7224179-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7224179&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 1,
          "criteria": [
            "PM2",
            "PM5",
            "BP4"
          ],
          "effects": [
            "missense_variant"
          ],
          "gene_symbol": "ACADVL",
          "hgnc_id": 92,
          "hgvs_c": "c.1537G>A",
          "hgvs_p": "p.Ala513Thr",
          "inheritance_mode": "AR",
          "pathogenic_score": 4,
          "score": 3,
          "transcript": "NM_001270447.2",
          "verdict": "Uncertain_significance"
        }
      ],
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PM5,BP4",
      "acmg_score": 3,
      "allele_count_reference_population": 1,
      "alphamissense_prediction": null,
      "alphamissense_score": 0.1968,
      "alt": "A",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Pathogenic",
      "bayesdelnoaf_score": 0.26,
      "chr": "17",
      "clinvar_classification": "Uncertain significance",
      "clinvar_disease": "not specified",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": 0.38432398438453674,
      "computational_source_selected": "MetaRNN",
      "consequences": [
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 655,
          "aa_ref": "A",
          "aa_start": 490,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2184,
          "cdna_start": 1515,
          "cds_end": null,
          "cds_length": 1968,
          "cds_start": 1468,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "NM_000018.4",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1468G>A",
          "hgvs_p": "p.Ala490Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000356839.10",
          "protein_coding": true,
          "protein_id": "NP_000009.1",
          "strand": true,
          "transcript": "NM_000018.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 655,
          "aa_ref": "A",
          "aa_start": 490,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 2184,
          "cdna_start": 1515,
          "cds_end": null,
          "cds_length": 1968,
          "cds_start": 1468,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000356839.10",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1468G>A",
          "hgvs_p": "p.Ala490Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_000018.4",
          "protein_coding": true,
          "protein_id": "ENSP00000349297.5",
          "strand": true,
          "transcript": "ENST00000356839.10",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 633,
          "aa_ref": "A",
          "aa_start": 468,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2191,
          "cdna_start": 1524,
          "cds_end": null,
          "cds_length": 1902,
          "cds_start": 1402,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000350303.9",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1402G>A",
          "hgvs_p": "p.Ala468Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000344152.5",
          "strand": true,
          "transcript": "ENST00000350303.9",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 678,
          "aa_ref": "A",
          "aa_start": 513,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2227,
          "cdna_start": 1558,
          "cds_end": null,
          "cds_length": 2037,
          "cds_start": 1537,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 21,
          "exon_rank": 16,
          "exon_rank_end": null,
          "feature": "NM_001270447.2",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1537G>A",
          "hgvs_p": "p.Ala513Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001257376.1",
          "strand": true,
          "transcript": "NM_001270447.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 678,
          "aa_ref": "A",
          "aa_start": 513,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2227,
          "cdna_start": 1558,
          "cds_end": null,
          "cds_length": 2037,
          "cds_start": 1537,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 21,
          "exon_rank": 16,
          "exon_rank_end": null,
          "feature": "ENST00000543245.6",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1537G>A",
          "hgvs_p": "p.Ala513Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000438689.2",
          "strand": true,
          "transcript": "ENST00000543245.6",
          "transcript_support_level": 2
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 669,
          "aa_ref": "A",
          "aa_start": 504,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2268,
          "cdna_start": 1600,
          "cds_end": null,
          "cds_length": 2010,
          "cds_start": 1510,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000945302.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1510G>A",
          "hgvs_p": "p.Ala504Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615361.1",
          "strand": true,
          "transcript": "ENST00000945302.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 665,
          "aa_ref": "A",
          "aa_start": 500,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2269,
          "cdna_start": 1602,
          "cds_end": null,
          "cds_length": 1998,
          "cds_start": 1498,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000883761.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1498G>A",
          "hgvs_p": "p.Ala500Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553820.1",
          "strand": true,
          "transcript": "ENST00000883761.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 663,
          "aa_ref": "A",
          "aa_start": 498,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2223,
          "cdna_start": 1555,
          "cds_end": null,
          "cds_length": 1992,
          "cds_start": 1492,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000945308.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1492G>A",
          "hgvs_p": "p.Ala498Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615367.1",
          "strand": true,
          "transcript": "ENST00000945308.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 661,
          "aa_ref": "A",
          "aa_start": 496,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2218,
          "cdna_start": 1549,
          "cds_end": null,
          "cds_length": 1986,
          "cds_start": 1486,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000883770.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1486G>A",
          "hgvs_p": "p.Ala496Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553829.1",
          "strand": true,
          "transcript": "ENST00000883770.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 655,
          "aa_ref": "A",
          "aa_start": 490,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2227,
          "cdna_start": 1558,
          "cds_end": null,
          "cds_length": 1968,
          "cds_start": 1468,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000916066.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1468G>A",
          "hgvs_p": "p.Ala490Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000586125.1",
          "strand": true,
          "transcript": "ENST00000916066.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 655,
          "aa_ref": "A",
          "aa_start": 490,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2220,
          "cdna_start": 1553,
          "cds_end": null,
          "cds_length": 1968,
          "cds_start": 1468,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000916068.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1468G>A",
          "hgvs_p": "p.Ala490Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000586127.1",
          "strand": true,
          "transcript": "ENST00000916068.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 654,
          "aa_ref": "A",
          "aa_start": 489,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2224,
          "cdna_start": 1555,
          "cds_end": null,
          "cds_length": 1965,
          "cds_start": 1465,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000883764.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1465G>A",
          "hgvs_p": "p.Ala489Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553823.1",
          "strand": true,
          "transcript": "ENST00000883764.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 652,
          "aa_ref": "A",
          "aa_start": 490,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2279,
          "cdna_start": 1618,
          "cds_end": null,
          "cds_length": 1959,
          "cds_start": 1468,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000883757.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1468G>A",
          "hgvs_p": "p.Ala490Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553816.1",
          "strand": true,
          "transcript": "ENST00000883757.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 652,
          "aa_ref": "A",
          "aa_start": 487,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2257,
          "cdna_start": 1590,
          "cds_end": null,
          "cds_length": 1959,
          "cds_start": 1459,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000945291.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1459G>A",
          "hgvs_p": "p.Ala487Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615350.1",
          "strand": true,
          "transcript": "ENST00000945291.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 651,
          "aa_ref": "A",
          "aa_start": 490,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2215,
          "cdna_start": 1557,
          "cds_end": null,
          "cds_length": 1956,
          "cds_start": 1468,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000945298.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1468G>A",
          "hgvs_p": "p.Ala490Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615357.1",
          "strand": true,
          "transcript": "ENST00000945298.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 650,
          "aa_ref": "A",
          "aa_start": 485,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2213,
          "cdna_start": 1543,
          "cds_end": null,
          "cds_length": 1953,
          "cds_start": 1453,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000945297.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1453G>A",
          "hgvs_p": "p.Ala485Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615356.1",
          "strand": true,
          "transcript": "ENST00000945297.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 647,
          "aa_ref": "A",
          "aa_start": 490,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2209,
          "cdna_start": 1616,
          "cds_end": null,
          "cds_length": 1944,
          "cds_start": 1468,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000883762.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1468G>A",
          "hgvs_p": "p.Ala490Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553821.1",
          "strand": true,
          "transcript": "ENST00000883762.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 647,
          "aa_ref": "A",
          "aa_start": 490,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2206,
          "cdna_start": 1561,
          "cds_end": null,
          "cds_length": 1944,
          "cds_start": 1468,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000883763.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1468G>A",
          "hgvs_p": "p.Ala490Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553822.1",
          "strand": true,
          "transcript": "ENST00000883763.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 647,
          "aa_ref": "A",
          "aa_start": 482,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2225,
          "cdna_start": 1558,
          "cds_end": null,
          "cds_length": 1944,
          "cds_start": 1444,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000945292.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1444G>A",
          "hgvs_p": "p.Ala482Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615351.1",
          "strand": true,
          "transcript": "ENST00000945292.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 646,
          "aa_ref": "A",
          "aa_start": 481,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2199,
          "cdna_start": 1531,
          "cds_end": null,
          "cds_length": 1941,
          "cds_start": 1441,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000945303.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1441G>A",
          "hgvs_p": "p.Ala481Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615362.1",
          "strand": true,
          "transcript": "ENST00000945303.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 644,
          "aa_ref": "A",
          "aa_start": 479,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2193,
          "cdna_start": 1525,
          "cds_end": null,
          "cds_length": 1935,
          "cds_start": 1435,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000945299.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1435G>A",
          "hgvs_p": "p.Ala479Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615358.1",
          "strand": true,
          "transcript": "ENST00000945299.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 642,
          "aa_ref": "A",
          "aa_start": 477,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2187,
          "cdna_start": 1519,
          "cds_end": null,
          "cds_length": 1929,
          "cds_start": 1429,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000945300.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1429G>A",
          "hgvs_p": "p.Ala477Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615359.1",
          "strand": true,
          "transcript": "ENST00000945300.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 639,
          "aa_ref": "A",
          "aa_start": 474,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2200,
          "cdna_start": 1528,
          "cds_end": null,
          "cds_length": 1920,
          "cds_start": 1420,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000945293.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1420G>A",
          "hgvs_p": "p.Ala474Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615352.1",
          "strand": true,
          "transcript": "ENST00000945293.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 633,
          "aa_ref": "A",
          "aa_start": 468,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2118,
          "cdna_start": 1449,
          "cds_end": null,
          "cds_length": 1902,
          "cds_start": 1402,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "NM_001033859.3",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1402G>A",
          "hgvs_p": "p.Ala468Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001029031.1",
          "strand": true,
          "transcript": "NM_001033859.3",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 633,
          "aa_ref": "A",
          "aa_start": 468,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2160,
          "cdna_start": 1492,
          "cds_end": null,
          "cds_length": 1902,
          "cds_start": 1402,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000945301.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1402G>A",
          "hgvs_p": "p.Ala468Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615360.1",
          "strand": true,
          "transcript": "ENST00000945301.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 633,
          "aa_ref": "A",
          "aa_start": 461,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2142,
          "cdna_start": 1454,
          "cds_end": null,
          "cds_length": 1902,
          "cds_start": 1381,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 18,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000945306.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1381G>A",
          "hgvs_p": "p.Ala461Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615365.1",
          "strand": true,
          "transcript": "ENST00000945306.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 632,
          "aa_ref": "A",
          "aa_start": 467,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2174,
          "cdna_start": 1506,
          "cds_end": null,
          "cds_length": 1899,
          "cds_start": 1399,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000883760.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1399G>A",
          "hgvs_p": "p.Ala467Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553819.1",
          "strand": true,
          "transcript": "ENST00000883760.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 631,
          "aa_ref": "A",
          "aa_start": 466,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2170,
          "cdna_start": 1500,
          "cds_end": null,
          "cds_length": 1896,
          "cds_start": 1396,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000945294.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1396G>A",
          "hgvs_p": "p.Ala466Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615353.1",
          "strand": true,
          "transcript": "ENST00000945294.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 630,
          "aa_ref": "A",
          "aa_start": 468,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2111,
          "cdna_start": 1452,
          "cds_end": null,
          "cds_length": 1893,
          "cds_start": 1402,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000945310.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1402G>A",
          "hgvs_p": "p.Ala468Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615369.1",
          "strand": true,
          "transcript": "ENST00000945310.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 626,
          "aa_ref": "A",
          "aa_start": 461,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2168,
          "cdna_start": 1499,
          "cds_end": null,
          "cds_length": 1881,
          "cds_start": 1381,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000883758.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1381G>A",
          "hgvs_p": "p.Ala461Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553817.1",
          "strand": true,
          "transcript": "ENST00000883758.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 625,
          "aa_ref": "A",
          "aa_start": 468,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2057,
          "cdna_start": 1413,
          "cds_end": null,
          "cds_length": 1878,
          "cds_start": 1402,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000945312.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1402G>A",
          "hgvs_p": "p.Ala468Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615371.1",
          "strand": true,
          "transcript": "ENST00000945312.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 620,
          "aa_ref": "A",
          "aa_start": 455,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2101,
          "cdna_start": 1432,
          "cds_end": null,
          "cds_length": 1863,
          "cds_start": 1363,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000883768.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1363G>A",
          "hgvs_p": "p.Ala455Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553827.1",
          "strand": true,
          "transcript": "ENST00000883768.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 619,
          "aa_ref": "A",
          "aa_start": 454,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2133,
          "cdna_start": 1465,
          "cds_end": null,
          "cds_length": 1860,
          "cds_start": 1360,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000945295.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1360G>A",
          "hgvs_p": "p.Ala454Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615354.1",
          "strand": true,
          "transcript": "ENST00000945295.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 617,
          "aa_ref": "A",
          "aa_start": 452,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2118,
          "cdna_start": 1450,
          "cds_end": null,
          "cds_length": 1854,
          "cds_start": 1354,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000945296.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1354G>A",
          "hgvs_p": "p.Ala452Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615355.1",
          "strand": true,
          "transcript": "ENST00000945296.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 612,
          "aa_ref": "A",
          "aa_start": 447,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2016,
          "cdna_start": 1350,
          "cds_end": null,
          "cds_length": 1839,
          "cds_start": 1339,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000916071.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1339G>A",
          "hgvs_p": "p.Ala447Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000586130.1",
          "strand": true,
          "transcript": "ENST00000916071.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 610,
          "aa_ref": "A",
          "aa_start": 445,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2113,
          "cdna_start": 1444,
          "cds_end": null,
          "cds_length": 1833,
          "cds_start": 1333,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000883759.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1333G>A",
          "hgvs_p": "p.Ala445Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553818.1",
          "strand": true,
          "transcript": "ENST00000883759.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 610,
          "aa_ref": "A",
          "aa_start": 445,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2087,
          "cdna_start": 1418,
          "cds_end": null,
          "cds_length": 1833,
          "cds_start": 1333,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000883767.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1333G>A",
          "hgvs_p": "p.Ala445Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553826.1",
          "strand": true,
          "transcript": "ENST00000883767.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 604,
          "aa_ref": "A",
          "aa_start": 439,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2073,
          "cdna_start": 1405,
          "cds_end": null,
          "cds_length": 1815,
          "cds_start": 1315,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 18,
          "exon_rank": 13,
          "exon_rank_end": null,
          "feature": "ENST00000883765.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1315G>A",
          "hgvs_p": "p.Ala439Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553824.1",
          "strand": true,
          "transcript": "ENST00000883765.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 598,
          "aa_ref": "A",
          "aa_start": 433,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2048,
          "cdna_start": 1380,
          "cds_end": null,
          "cds_length": 1797,
          "cds_start": 1297,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 18,
          "exon_rank": 13,
          "exon_rank_end": null,
          "feature": "ENST00000945304.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1297G>A",
          "hgvs_p": "p.Ala433Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615363.1",
          "strand": true,
          "transcript": "ENST00000945304.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 591,
          "aa_ref": "A",
          "aa_start": 426,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1997,
          "cdna_start": 1330,
          "cds_end": null,
          "cds_length": 1776,
          "cds_start": 1276,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 18,
          "exon_rank": 13,
          "exon_rank_end": null,
          "feature": "ENST00000945309.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1276G>A",
          "hgvs_p": "p.Ala426Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615368.1",
          "strand": true,
          "transcript": "ENST00000945309.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 588,
          "aa_ref": "A",
          "aa_start": 423,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2016,
          "cdna_start": 1350,
          "cds_end": null,
          "cds_length": 1767,
          "cds_start": 1267,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 18,
          "exon_rank": 13,
          "exon_rank_end": null,
          "feature": "ENST00000945305.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1267G>A",
          "hgvs_p": "p.Ala423Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615364.1",
          "strand": true,
          "transcript": "ENST00000945305.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 580,
          "aa_ref": "A",
          "aa_start": 415,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1981,
          "cdna_start": 1314,
          "cds_end": null,
          "cds_length": 1743,
          "cds_start": 1243,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 18,
          "exon_rank": 13,
          "exon_rank_end": null,
          "feature": "ENST00000945307.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1243G>A",
          "hgvs_p": "p.Ala415Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615366.1",
          "strand": true,
          "transcript": "ENST00000945307.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 579,
          "aa_ref": "A",
          "aa_start": 414,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2259,
          "cdna_start": 1590,
          "cds_end": null,
          "cds_length": 1740,
          "cds_start": 1240,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "NM_001270448.2",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1240G>A",
          "hgvs_p": "p.Ala414Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001257377.1",
          "strand": true,
          "transcript": "NM_001270448.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 564,
          "aa_ref": "A",
          "aa_start": 399,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1929,
          "cdna_start": 1260,
          "cds_end": null,
          "cds_length": 1695,
          "cds_start": 1195,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 17,
          "exon_rank": 12,
          "exon_rank_end": null,
          "feature": "ENST00000883769.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1195G>A",
          "hgvs_p": "p.Ala399Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553828.1",
          "strand": true,
          "transcript": "ENST00000883769.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 433,
          "aa_ref": "A",
          "aa_start": 268,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1561,
          "cdna_start": 892,
          "cds_end": null,
          "cds_length": 1302,
          "cds_start": 802,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": 10,
          "exon_rank_end": null,
          "feature": "ENST00000916067.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.802G>A",
          "hgvs_p": "p.Ala268Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000586126.1",
          "strand": true,
          "transcript": "ENST00000916067.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 432,
          "aa_ref": "A",
          "aa_start": 267,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1496,
          "cdna_start": 828,
          "cds_end": null,
          "cds_length": 1299,
          "cds_start": 799,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 15,
          "exon_rank": 10,
          "exon_rank_end": null,
          "feature": "ENST00000916070.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.799G>A",
          "hgvs_p": "p.Ala267Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000586129.1",
          "strand": true,
          "transcript": "ENST00000916070.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 364,
          "aa_ref": "A",
          "aa_start": 199,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1316,
          "cdna_start": 648,
          "cds_end": null,
          "cds_length": 1095,
          "cds_start": 595,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 13,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000883771.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.595G>A",
          "hgvs_p": "p.Ala199Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553830.1",
          "strand": true,
          "transcript": "ENST00000883771.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 346,
          "aa_ref": "A",
          "aa_start": 181,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1280,
          "cdna_start": 614,
          "cds_end": null,
          "cds_length": 1041,
          "cds_start": 541,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 13,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000916069.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.541G>A",
          "hgvs_p": "p.Ala181Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000586128.1",
          "strand": true,
          "transcript": "ENST00000916069.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 324,
          "aa_ref": "A",
          "aa_start": 159,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1153,
          "cdna_start": 484,
          "cds_end": null,
          "cds_length": 975,
          "cds_start": 475,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 12,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "ENST00000945313.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.475G>A",
          "hgvs_p": "p.Ala159Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615372.1",
          "strand": true,
          "transcript": "ENST00000945313.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 281,
          "aa_ref": "A",
          "aa_start": 109,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1016,
          "cdna_start": 326,
          "cds_end": null,
          "cds_length": 846,
          "cds_start": 325,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 9,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000542255.6",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.325G>A",
          "hgvs_p": "p.Ala109Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000442082.2",
          "strand": true,
          "transcript": "ENST00000542255.6",
          "transcript_support_level": 5
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 662,
          "aa_ref": "A",
          "aa_start": 490,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2205,
          "cdna_start": 1515,
          "cds_end": null,
          "cds_length": 1989,
          "cds_start": 1468,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "XM_006721516.4",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1468G>A",
          "hgvs_p": "p.Ala490Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_006721579.2",
          "strand": true,
          "transcript": "XM_006721516.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": "T",
          "aa_end": null,
          "aa_length": 549,
          "aa_ref": "A",
          "aa_start": 490,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1702,
          "cdna_start": 1515,
          "cds_end": null,
          "cds_length": 1650,
          "cds_start": 1468,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 17,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "XM_047435931.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1468G>A",
          "hgvs_p": "p.Ala490Thr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047291887.1",
          "strand": true,
          "transcript": "XM_047435931.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 628,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2105,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 1887,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 18,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000945311.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1434+110G>A",
          "hgvs_p": null,
          "intron_rank": 14,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000615370.1",
          "strand": true,
          "transcript": "ENST00000945311.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 621,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2123,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 1866,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 19,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000883766.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1434+110G>A",
          "hgvs_p": null,
          "intron_rank": 14,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000553825.1",
          "strand": true,
          "transcript": "ENST00000883766.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 192,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 582,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 581,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 9,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000579546.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.270+110G>A",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000464254.1",
          "strand": true,
          "transcript": "ENST00000579546.1",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 628,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2103,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 1887,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 18,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_011523829.3",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1434+110G>A",
          "hgvs_p": null,
          "intron_rank": 14,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_011522131.1",
          "strand": true,
          "transcript": "XM_011523829.3",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 621,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2082,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 1866,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 19,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_011523830.3",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1434+110G>A",
          "hgvs_p": null,
          "intron_rank": 14,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_011522132.1",
          "strand": true,
          "transcript": "XM_011523830.3",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 527,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1646,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 1584,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 17,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_047435932.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "c.1434+110G>A",
          "hgvs_p": null,
          "intron_rank": 14,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047291888.1",
          "strand": true,
          "transcript": "XM_047435932.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "nonsense_mediated_decay",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2352,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000322910.9",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.*1423G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": "ENSP00000325395.5",
          "strand": true,
          "transcript": "ENST00000322910.9",
          "transcript_support_level": 2
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "retained_intron",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1732,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 1,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "ENST00000578711.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.675G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "ENST00000578711.1",
          "transcript_support_level": 6
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "retained_intron",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 341,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 3,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "ENST00000579391.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.76G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "ENST00000579391.1",
          "transcript_support_level": 2
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "retained_intron",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1234,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 9,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000579425.5",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.584G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "ENST00000579425.5",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "retained_intron",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 429,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 3,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "ENST00000579894.5",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.255G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "ENST00000579894.5",
          "transcript_support_level": 2
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "retained_intron",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 903,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 9,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000583850.5",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.243G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "ENST00000583850.5",
          "transcript_support_level": 2
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "retained_intron",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 947,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 9,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000585203.6",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.659G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "ENST00000585203.6",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "nonsense_mediated_decay",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2352,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_count": 19,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000322910.9",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.*1423G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": "ENSP00000325395.5",
          "strand": true,
          "transcript": "ENST00000322910.9",
          "transcript_support_level": 2
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 410,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000583074.5",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.153+110G>A",
          "hgvs_p": null,
          "intron_rank": 2,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "ENST00000583074.5",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "nonsense_mediated_decay",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1015,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 10,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000583858.5",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.462+110G>A",
          "hgvs_p": null,
          "intron_rank": 5,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": "ENSP00000462611.1",
          "strand": true,
          "transcript": "ENST00000583858.5",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1740,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 18,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XR_007065296.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.1481+110G>A",
          "hgvs_p": null,
          "intron_rank": 14,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "XR_007065296.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "retained_intron",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 718,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000578319.5",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.-38G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "ENST00000578319.5",
          "transcript_support_level": 3
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "retained_intron",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 709,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000578809.5",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.-38G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "ENST00000578809.5",
          "transcript_support_level": 2
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "retained_intron",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 294,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_count": 2,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000582450.1",
          "gene_hgnc_id": 92,
          "gene_symbol": "ACADVL",
          "hgvs_c": "n.-102G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "ENST00000582450.1",
          "transcript_support_level": 2
        }
      ],
      "custom_annotations": null,
      "dbscsnv_ada_prediction": null,
      "dbscsnv_ada_score": null,
      "dbsnp": "rs759775666",
      "effect": "missense_variant",
      "frequency_reference_population": 6.8406376e-7,
      "gene_hgnc_id": 92,
      "gene_symbol": "ACADVL",
      "gnomad_exomes_ac": 1,
      "gnomad_exomes_af": 6.84064e-7,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_ac": null,
      "gnomad_genomes_af": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_heteroplasmic": null,
      "gnomad_mito_homoplasmic": null,
      "hom_count_reference_population": 0,
      "mitotip_prediction": null,
      "mitotip_score": null,
      "pathogenicity_classification_combined": "Uncertain significance",
      "phenotype_combined": "not specified",
      "phylop100way_prediction": "Uncertain_significance",
      "phylop100way_score": 4.203,
      "pos": 7224179,
      "ref": "G",
      "revel_prediction": "Uncertain_significance",
      "revel_score": 0.546,
      "splice_prediction_selected": "Benign",
      "splice_score_selected": 0,
      "splice_source_selected": "max_spliceai",
      "spliceai_max_prediction": "Benign",
      "spliceai_max_score": 0,
      "transcript": "NM_001270447.2"
    }
  ]
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.