← 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: 18-34091638-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=34091638&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 34091638,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000261592.10",
      "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.772+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_003787.5",
          "protein_id": "NP_003778.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 638,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1917,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5319,
          "mane_select": "ENST00000261592.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.772+1827C>G",
          "hgvs_p": null,
          "transcript": "ENST00000261592.10",
          "protein_id": "ENSP00000261592.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 638,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1917,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5319,
          "mane_select": "NM_003787.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.772+1827C>G",
          "hgvs_p": null,
          "transcript": "ENST00000589544.5",
          "protein_id": "ENSP00000465450.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2221,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.841+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001384467.1",
          "protein_id": "NP_001371396.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 661,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1986,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.841+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001384468.1",
          "protein_id": "NP_001371397.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5196,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.835+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001384469.1",
          "protein_id": "NP_001371398.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 595,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1788,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5190,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.772+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001198546.1",
          "protein_id": "NP_001185475.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 574,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1725,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3765,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.550+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001198547.2",
          "protein_id": "NP_001185476.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 564,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3846,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.550+1827C>G",
          "hgvs_p": null,
          "transcript": "ENST00000538587.5",
          "protein_id": "ENSP00000443472.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 564,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1979,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.724+1827C>G",
          "hgvs_p": null,
          "transcript": "ENST00000590712.5",
          "protein_id": "ENSP00000467629.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 558,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1677,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1930,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.772+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001198548.1",
          "protein_id": "NP_001185477.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3651,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.772+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001353232.1",
          "protein_id": "NP_001340161.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 520,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1563,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3776,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.550+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001353234.2",
          "protein_id": "NP_001340163.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3654,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.307+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001353235.2",
          "protein_id": "NP_001340164.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 483,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1452,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3887,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.430+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001384470.1",
          "protein_id": "NP_001371399.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4210,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.307+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001282527.2",
          "protein_id": "NP_001269456.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 419,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1260,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3695,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.307+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001353237.1",
          "protein_id": "NP_001340166.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 419,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1260,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3806,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.307+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001384471.1",
          "protein_id": "NP_001371400.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 419,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1260,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5237,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.-194+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001353233.1",
          "protein_id": "NP_001340162.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 387,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1164,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4169,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.-149+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001384472.1",
          "protein_id": "NP_001371401.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 353,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1062,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5425,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.-194+1827C>G",
          "hgvs_p": null,
          "transcript": "NM_001384473.1",
          "protein_id": "NP_001371402.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5339,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "n.*381+1827C>G",
          "hgvs_p": null,
          "transcript": "ENST00000586314.5",
          "protein_id": "ENSP00000464704.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2193,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.772+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_006722563.4",
          "protein_id": "XP_006722626.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 638,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1917,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4793,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.772+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_011526237.3",
          "protein_id": "XP_011524539.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 638,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1917,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4790,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.772+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_047437901.1",
          "protein_id": "XP_047293857.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 638,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1917,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4976,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.772+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_047437902.1",
          "protein_id": "XP_047293858.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 638,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1917,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4890,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.430+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_011526238.3",
          "protein_id": "XP_011524540.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4402,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.430+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_024451279.2",
          "protein_id": "XP_024307047.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3479,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.412+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_017026052.2",
          "protein_id": "XP_016881541.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3548,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.307+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_011526239.4",
          "protein_id": "XP_011524541.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 483,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1452,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3712,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.307+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_017026053.2",
          "protein_id": "XP_016881542.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 483,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1452,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3695,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.307+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_017026058.3",
          "protein_id": "XP_016881547.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 483,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1452,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3422,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.307+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_047437905.1",
          "protein_id": "XP_047293861.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 419,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1260,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3228,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 8,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.772+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_047437903.1",
          "protein_id": "XP_047293859.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 350,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2798,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 7,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "c.772+1827C>G",
          "hgvs_p": null,
          "transcript": "XM_047437904.1",
          "protein_id": "XP_047293860.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2781,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NOL4",
          "gene_hgnc_id": 7870,
          "hgvs_c": "n.2432+1827C>G",
          "hgvs_p": null,
          "transcript": "XR_935261.4",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3096,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "NOL4",
      "gene_hgnc_id": 7870,
      "dbsnp": "rs12185438",
      "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": -0.9399999976158142,
      "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": -0.94,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.82,
      "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": "ENST00000261592.10",
          "gene_symbol": "NOL4",
          "hgnc_id": 7870,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.772+1827C>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
}