← 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: 2-217812863-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=217812863&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 217812863,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000682258.1",
      "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": 33,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4954+352C>T",
          "hgvs_p": null,
          "transcript": "NM_001387777.1",
          "protein_id": "NP_001374706.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1839,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5520,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10311,
          "mane_select": "ENST00000682258.1",
          "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": 33,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4954+352C>T",
          "hgvs_p": null,
          "transcript": "ENST00000682258.1",
          "protein_id": "ENSP00000506917.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1839,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5520,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10311,
          "mane_select": "NM_001387777.1",
          "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": 33,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4642+352C>T",
          "hgvs_p": null,
          "transcript": "ENST00000171887.8",
          "protein_id": "ENSP00000171887.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1735,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5208,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10331,
          "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": 32,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4600+352C>T",
          "hgvs_p": null,
          "transcript": "ENST00000419504.6",
          "protein_id": "ENSP00000408724.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1721,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5166,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6154,
          "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": 15,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.1975+352C>T",
          "hgvs_p": null,
          "transcript": "ENST00000446688.5",
          "protein_id": "ENSP00000394171.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 846,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2541,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4292,
          "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": 33,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5017+352C>T",
          "hgvs_p": null,
          "transcript": "NM_001438865.1",
          "protein_id": "NP_001425794.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1860,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5583,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10331,
          "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": 33,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5017+352C>T",
          "hgvs_p": null,
          "transcript": "ENST00000646520.1",
          "protein_id": "ENSP00000493967.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1860,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5583,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10680,
          "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": 33,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4951+352C>T",
          "hgvs_p": null,
          "transcript": "NM_001438866.1",
          "protein_id": "NP_001425795.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1838,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5517,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10308,
          "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": 33,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4918+352C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651849.1",
          "protein_id": "ENSP00000498399.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1827,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5484,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10148,
          "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": 31,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4774+352C>T",
          "hgvs_p": null,
          "transcript": "NM_001438867.1",
          "protein_id": "NP_001425796.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1779,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5340,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10573,
          "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": 34,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4729+352C>T",
          "hgvs_p": null,
          "transcript": "ENST00000705226.1",
          "protein_id": "ENSP00000516092.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1764,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5295,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10418,
          "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": 33,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4642+352C>T",
          "hgvs_p": null,
          "transcript": "NM_022648.7",
          "protein_id": "NP_072174.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1735,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5208,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10271,
          "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": 31,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4600+352C>T",
          "hgvs_p": null,
          "transcript": "NM_001308022.2",
          "protein_id": "NP_001294951.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1721,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5166,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10023,
          "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": 31,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4579+352C>T",
          "hgvs_p": null,
          "transcript": "NM_001308023.2",
          "protein_id": "NP_001294952.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1714,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5145,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10208,
          "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": 31,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4579+352C>T",
          "hgvs_p": null,
          "transcript": "ENST00000615025.6",
          "protein_id": "ENSP00000480559.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1714,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5145,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6553,
          "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": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.3250+352C>T",
          "hgvs_p": null,
          "transcript": "NM_001438868.1",
          "protein_id": "NP_001425797.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1271,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3816,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8940,
          "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": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.3211+352C>T",
          "hgvs_p": null,
          "transcript": "NM_001438869.1",
          "protein_id": "NP_001425798.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1258,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3777,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8852,
          "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": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "n.425+352C>T",
          "hgvs_p": null,
          "transcript": "ENST00000490566.1",
          "protein_id": null,
          "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": 1652,
          "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": 39,
          "intron_rank": 33,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5770+352C>T",
          "hgvs_p": null,
          "transcript": "XM_047445636.1",
          "protein_id": "XP_047301592.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2111,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6336,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11084,
          "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": 37,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5575+352C>T",
          "hgvs_p": null,
          "transcript": "XM_047445637.1",
          "protein_id": "XP_047301593.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2046,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6141,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10816,
          "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": 37,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5515+352C>T",
          "hgvs_p": null,
          "transcript": "XM_047445638.1",
          "protein_id": "XP_047301594.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2026,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6081,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10829,
          "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": 36,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5455+352C>T",
          "hgvs_p": null,
          "transcript": "XM_024453078.2",
          "protein_id": "XP_024308846.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2006,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6021,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11977,
          "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": 37,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5452+352C>T",
          "hgvs_p": null,
          "transcript": "XM_024453079.2",
          "protein_id": "XP_024308847.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2005,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6018,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10809,
          "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": 36,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5299+352C>T",
          "hgvs_p": null,
          "transcript": "XM_047445639.1",
          "protein_id": "XP_047301595.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1954,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5865,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10613,
          "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": 35,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5272+352C>T",
          "hgvs_p": null,
          "transcript": "XM_024453080.2",
          "protein_id": "XP_024308848.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1945,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5838,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11071,
          "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": 36,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5236+352C>T",
          "hgvs_p": null,
          "transcript": "XM_047445640.1",
          "protein_id": "XP_047301596.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1933,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5802,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10593,
          "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": 33,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5173+352C>T",
          "hgvs_p": null,
          "transcript": "XM_047445641.1",
          "protein_id": "XP_047301597.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1912,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5739,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11695,
          "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": 35,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5149+352C>T",
          "hgvs_p": null,
          "transcript": "XM_047445642.1",
          "protein_id": "XP_047301598.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1904,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5715,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10506,
          "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": 35,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5077+352C>T",
          "hgvs_p": null,
          "transcript": "XM_024453081.2",
          "protein_id": "XP_024308849.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1880,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5643,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10706,
          "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": 32,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.5077+352C>T",
          "hgvs_p": null,
          "transcript": "XM_047445643.1",
          "protein_id": "XP_047301599.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1880,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5643,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10401,
          "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": 35,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4861+352C>T",
          "hgvs_p": null,
          "transcript": "XM_047445646.1",
          "protein_id": "XP_047301602.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1808,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5427,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10430,
          "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": 34,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.4642+352C>T",
          "hgvs_p": null,
          "transcript": "XM_024453084.2",
          "protein_id": "XP_024308852.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1735,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5208,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10218,
          "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": 19,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.3991+352C>T",
          "hgvs_p": null,
          "transcript": "XM_017004813.3",
          "protein_id": "XP_016860302.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1518,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9553,
          "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": 19,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.3493+352C>T",
          "hgvs_p": null,
          "transcript": "XM_017004814.2",
          "protein_id": "XP_016860303.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9183,
          "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": 19,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.3493+352C>T",
          "hgvs_p": null,
          "transcript": "XM_017004815.2",
          "protein_id": "XP_016860304.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9134,
          "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": 18,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.3406+352C>T",
          "hgvs_p": null,
          "transcript": "XM_047445648.1",
          "protein_id": "XP_047301604.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1323,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9096,
          "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": 18,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.3337+352C>T",
          "hgvs_p": null,
          "transcript": "XM_047445649.1",
          "protein_id": "XP_047301605.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1300,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3903,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9027,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "TNS1",
      "gene_hgnc_id": 11973,
      "dbsnp": "rs76043829",
      "frequency_reference_population": 0.07225662,
      "hom_count_reference_population": 509,
      "allele_count_reference_population": 10995,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.0722566,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 10995,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 509,
      "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": 0.009999999776482582,
      "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": -0.816,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000682258.1",
          "gene_symbol": "TNS1",
          "hgnc_id": 11973,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.4954+352C>T",
          "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
}