← 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: 16-15722289-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15722289&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 15722289,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_001040114.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4366-655A>C",
          "hgvs_p": null,
          "transcript": "NM_002474.3",
          "protein_id": "NP_002465.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1972,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5919,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000300036.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002474.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4366-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000300036.6",
          "protein_id": "ENSP00000300036.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1972,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5919,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002474.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000300036.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": 32,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4387-655A>C",
          "hgvs_p": null,
          "transcript": "NM_001040113.2",
          "protein_id": "NP_001035202.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1945,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5838,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "ENST00000452625.7",
          "biotype": "protein_coding",
          "feature": "NM_001040113.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": 32,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4387-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000452625.7",
          "protein_id": "ENSP00000407821.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1945,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5838,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "NM_001040113.2",
          "biotype": "protein_coding",
          "feature": "ENST00000452625.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null,
          "transcript": "NM_017668.3",
          "protein_id": "NP_060138.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000396354.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_017668.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000396354.6",
          "protein_id": "ENSP00000379642.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_017668.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396354.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": 32,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4387-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000396324.7",
          "protein_id": "ENSP00000379616.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1979,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5940,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396324.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4366-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000576790.7",
          "protein_id": "ENSP00000458731.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1938,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5817,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000576790.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000396355.5",
          "protein_id": "ENSP00000379643.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396355.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "n.654-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000571275.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000571275.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": 32,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4414-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000911137.1",
          "protein_id": "ENSP00000581196.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1988,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5967,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911137.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4366-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000911136.1",
          "protein_id": "ENSP00000581195.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1985,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5958,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911136.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": 32,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4393-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000963704.1",
          "protein_id": "ENSP00000633763.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1981,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5946,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963704.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": 32,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4387-655A>C",
          "hgvs_p": null,
          "transcript": "NM_001040114.2",
          "protein_id": "NP_001035203.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1979,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5940,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001040114.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": 32,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4387-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000911133.1",
          "protein_id": "ENSP00000581192.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1977,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5934,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911133.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4366-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000713757.1",
          "protein_id": "ENSP00000519058.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1972,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5919,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000713757.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4366-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000911134.1",
          "protein_id": "ENSP00000581193.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1972,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5919,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911134.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4366-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000911140.1",
          "protein_id": "ENSP00000581199.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1972,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5919,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911140.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4366-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000963701.1",
          "protein_id": "ENSP00000633760.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1972,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5919,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963701.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4339-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000963702.1",
          "protein_id": "ENSP00000633761.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1963,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5892,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963702.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4273-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000911139.1",
          "protein_id": "ENSP00000581198.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1941,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5826,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911139.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4273-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000963703.1",
          "protein_id": "ENSP00000633762.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1941,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5826,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963703.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4270-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000911138.1",
          "protein_id": "ENSP00000581197.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1940,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5823,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911138.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4366-655A>C",
          "hgvs_p": null,
          "transcript": "NM_022844.3",
          "protein_id": "NP_074035.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1938,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5817,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_022844.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "c.4192-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000911135.1",
          "protein_id": "ENSP00000581194.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1914,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5745,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911135.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.1031-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000577101.6",
          "protein_id": "ENSP00000461729.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000577101.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null,
          "transcript": "NM_001143979.2",
          "protein_id": "NP_001137451.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001143979.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000911227.1",
          "protein_id": "ENSP00000581286.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911227.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000911228.1",
          "protein_id": "ENSP00000581287.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911228.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000911231.1",
          "protein_id": "ENSP00000581290.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911231.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000911233.1",
          "protein_id": "ENSP00000581292.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911233.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000911234.1",
          "protein_id": "ENSP00000581293.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911234.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000963926.1",
          "protein_id": "ENSP00000633985.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963926.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000963928.1",
          "protein_id": "ENSP00000633987.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963928.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000963929.1",
          "protein_id": "ENSP00000633988.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963929.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.945-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000911229.1",
          "protein_id": "ENSP00000581288.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911229.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.945-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000911232.1",
          "protein_id": "ENSP00000581291.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911232.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.945-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000934469.1",
          "protein_id": "ENSP00000604528.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000934469.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.796-1986T>G",
          "hgvs_p": null,
          "transcript": "ENST00000674995.1",
          "protein_id": "ENSP00000502414.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 317,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 954,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674995.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.858-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000963930.1",
          "protein_id": "ENSP00000633989.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 305,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 918,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963930.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.796-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000572756.6",
          "protein_id": "ENSP00000460436.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 853,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000572756.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.*7-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000674581.1",
          "protein_id": "ENSP00000502100.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674581.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.768-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000911230.1",
          "protein_id": "ENSP00000581289.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 275,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 828,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911230.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.645-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000963927.1",
          "protein_id": "ENSP00000633986.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 234,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 705,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963927.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.*33-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000572967.1",
          "protein_id": "ENSP00000459918.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 139,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 420,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000572967.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "c.379-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000573694.5",
          "protein_id": "ENSP00000459863.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 135,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 410,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000573694.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "n.184+613T>G",
          "hgvs_p": null,
          "transcript": "ENST00000572503.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000572503.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "n.169-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000576164.6",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000576164.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": 32,
          "intron_rank_end": null,
          "gene_symbol": "MYH11",
          "gene_hgnc_id": 7569,
          "hgvs_c": "n.*2549-655A>C",
          "hgvs_p": null,
          "transcript": "ENST00000652121.1",
          "protein_id": "ENSP00000498314.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000652121.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "n.796-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000674538.1",
          "protein_id": "ENSP00000501547.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000674538.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "n.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000674554.1",
          "protein_id": "ENSP00000502635.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000674554.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "n.796-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000674588.1",
          "protein_id": "ENSP00000502802.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000674588.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "n.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000674888.1",
          "protein_id": "ENSP00000501936.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000674888.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "n.*349-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000674900.1",
          "protein_id": "ENSP00000502662.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000674900.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "n.*700-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000675171.1",
          "protein_id": "ENSP00000501812.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000675171.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "n.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000675926.1",
          "protein_id": "ENSP00000502354.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000675926.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NDE1",
          "gene_hgnc_id": 17619,
          "hgvs_c": "n.948-1902T>G",
          "hgvs_p": null,
          "transcript": "ENST00000675951.1",
          "protein_id": "ENSP00000502160.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000675951.1"
        }
      ],
      "gene_symbol": "MYH11",
      "gene_hgnc_id": 7569,
      "dbsnp": "rs2384933",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8500000238418579,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.85,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.987,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001040114.2",
          "gene_symbol": "MYH11",
          "hgnc_id": 7569,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.4387-655A>C",
          "hgvs_p": null
        },
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_017668.3",
          "gene_symbol": "NDE1",
          "hgnc_id": 17619,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR,Unknown",
          "hgvs_c": "c.948-1902T>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}