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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: 13-40911532-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=40911532&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 40911532,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000632487.1",
      "consequences": [
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.131+10087A>T",
          "hgvs_p": null,
          "transcript": "ENST00000379515.4",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 1212,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.171+10087A>T",
          "hgvs_p": null,
          "transcript": "ENST00000432905.6",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 1919,
          "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": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": 20513,
          "hgvs_c": "n.329+202A>T",
          "hgvs_p": null,
          "transcript": "ENST00000604259.5",
          "protein_id": null,
          "transcript_support_level": 6,
          "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": 383,
          "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.162-3320A>T",
          "hgvs_p": null,
          "transcript": "ENST00000632487.1",
          "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": 519,
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.242-3320A>T",
          "hgvs_p": null,
          "transcript": "ENST00000633547.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 2469,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.172-3320A>T",
          "hgvs_p": null,
          "transcript": "ENST00000633814.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 2330,
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.123-3320A>T",
          "hgvs_p": null,
          "transcript": "ENST00000652519.1",
          "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": 1296,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.169+10087A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842303.1",
          "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": 1705,
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.122+10087A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842304.1",
          "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": 1223,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.120+10087A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842305.1",
          "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": 1129,
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.120+10087A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842306.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1448,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.101-3320A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842307.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_count": 3,
          "intron_rank": 1,
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          "gene_symbol": "SUGT1P3",
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          "hgvs_c": "n.169+10087A>T",
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          "transcript": "ENST00000842308.1",
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        {
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 1,
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          "gene_symbol": "SUGT1P3",
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          "hgvs_c": "n.121-3320A>T",
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          "transcript": "ENST00000842309.1",
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          "mane_select": null,
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        },
        {
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.117-3320A>T",
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          "transcript": "ENST00000842310.1",
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        {
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          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
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          "hgvs_c": "n.227+9942A>T",
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          "transcript": "ENST00000842311.1",
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        },
        {
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          ],
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          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.116+10087A>T",
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          "transcript": "ENST00000842312.1",
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        {
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          "strand": false,
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          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.55-3320A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842313.1",
          "protein_id": null,
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          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
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        {
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          ],
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          "gene_symbol": "SUGT1P3",
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          "hgvs_c": "n.49+10087A>T",
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          "transcript": "ENST00000842315.1",
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        {
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          ],
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.50-3320A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842316.1",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "protein_coding": false,
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          "exon_count": 3,
          "intron_rank": 1,
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          "gene_symbol": "SUGT1P3",
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          "hgvs_c": "n.149-3320A>T",
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          "transcript": "ENST00000842883.1",
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          "transcript_support_level": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 382,
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        },
        {
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          ],
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          "exon_count": 8,
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          "gene_symbol": "TPTE2P5",
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          "hgvs_c": "n.132+10087A>T",
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          "transcript": "NR_038258.1",
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 4362,
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        },
        {
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          "protein_coding": false,
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 1,
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          "gene_symbol": "TPTE2P5",
          "gene_hgnc_id": 42356,
          "hgvs_c": "n.132+10087A>T",
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          "transcript": "NR_038259.1",
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          "aa_start": null,
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          "aa_length": null,
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          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 4191,
          "mane_select": null,
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        },
        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "SUGT1P3",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*240A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842885.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
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          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1220,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "SUGT1P3",
      "gene_hgnc_id": null,
      "dbsnp": "rs1989252",
      "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": -0.7699999809265137,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.77,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.135,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "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": "ENST00000632487.1",
          "gene_symbol": "SUGT1P3",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.162-3320A>T",
          "hgvs_p": null
        },
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NR_038258.1",
          "gene_symbol": "TPTE2P5",
          "hgnc_id": 42356,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.132+10087A>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
}