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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: 8-67164395-GAA-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=67164395&ref=GAA&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 67164395,
      "ref": "GAA",
      "alt": "G",
      "effect": "frameshift_variant",
      "transcript": "ENST00000678616.1",
      "consequences": [
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2722_2723delAA",
          "hgvs_p": "p.Asn908fs",
          "transcript": "NM_001382391.1",
          "protein_id": "NP_001369320.1",
          "transcript_support_level": null,
          "aa_start": 908,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": 2722,
          "cds_end": null,
          "cds_length": 3681,
          "cdna_start": 2879,
          "cdna_end": null,
          "cdna_length": 4859,
          "mane_select": "ENST00000678616.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2722_2723delAA",
          "hgvs_p": "p.Asn908fs",
          "transcript": "ENST00000678616.1",
          "protein_id": "ENSP00000504733.1",
          "transcript_support_level": null,
          "aa_start": 908,
          "aa_end": null,
          "aa_length": 1226,
          "cds_start": 2722,
          "cds_end": null,
          "cds_length": 3681,
          "cdna_start": 2879,
          "cdna_end": null,
          "cdna_length": 4859,
          "mane_select": "NM_001382391.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2788_2789delAA",
          "hgvs_p": "p.Asn930fs",
          "transcript": "ENST00000262210.11",
          "protein_id": "ENSP00000262210.6",
          "transcript_support_level": 1,
          "aa_start": 930,
          "aa_end": null,
          "aa_length": 1248,
          "cds_start": 2788,
          "cds_end": null,
          "cds_length": 3747,
          "cdna_start": 2847,
          "cdna_end": null,
          "cdna_length": 4476,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.1672_1673delAA",
          "hgvs_p": "p.Asn558fs",
          "transcript": "ENST00000519668.1",
          "protein_id": "ENSP00000430092.1",
          "transcript_support_level": 1,
          "aa_start": 558,
          "aa_end": null,
          "aa_length": 876,
          "cds_start": 1672,
          "cds_end": null,
          "cds_length": 2631,
          "cdna_start": 2738,
          "cdna_end": null,
          "cdna_length": 3715,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "n.712_713delAA",
          "hgvs_p": null,
          "transcript": "ENST00000521168.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 1457,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2830_2831delAA",
          "hgvs_p": "p.Asn944fs",
          "transcript": "ENST00000676605.1",
          "protein_id": "ENSP00000503605.1",
          "transcript_support_level": null,
          "aa_start": 944,
          "aa_end": null,
          "aa_length": 1262,
          "cds_start": 2830,
          "cds_end": null,
          "cds_length": 3789,
          "cdna_start": 2867,
          "cdna_end": null,
          "cdna_length": 5011,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2830_2831delAA",
          "hgvs_p": "p.Asn944fs",
          "transcript": "ENST00000678542.1",
          "protein_id": "ENSP00000503878.1",
          "transcript_support_level": null,
          "aa_start": 944,
          "aa_end": null,
          "aa_length": 1262,
          "cds_start": 2830,
          "cds_end": null,
          "cds_length": 3789,
          "cdna_start": 2867,
          "cdna_end": null,
          "cdna_length": 5011,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2812_2813delAA",
          "hgvs_p": "p.Asn938fs",
          "transcript": "ENST00000674993.1",
          "protein_id": "ENSP00000502454.1",
          "transcript_support_level": null,
          "aa_start": 938,
          "aa_end": null,
          "aa_length": 1256,
          "cds_start": 2812,
          "cds_end": null,
          "cds_length": 3771,
          "cdna_start": 2843,
          "cdna_end": null,
          "cdna_length": 3802,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2788_2789delAA",
          "hgvs_p": "p.Asn930fs",
          "transcript": "NM_001364869.1",
          "protein_id": "NP_001351798.1",
          "transcript_support_level": null,
          "aa_start": 930,
          "aa_end": null,
          "aa_length": 1248,
          "cds_start": 2788,
          "cds_end": null,
          "cds_length": 3747,
          "cdna_start": 2795,
          "cdna_end": null,
          "cdna_length": 4775,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2707_2708delAA",
          "hgvs_p": "p.Asn903fs",
          "transcript": "NM_024790.7",
          "protein_id": "NP_079066.5",
          "transcript_support_level": null,
          "aa_start": 903,
          "aa_end": null,
          "aa_length": 1221,
          "cds_start": 2707,
          "cds_end": null,
          "cds_length": 3666,
          "cdna_start": 2714,
          "cdna_end": null,
          "cdna_length": 4694,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2707_2708delAA",
          "hgvs_p": "p.Asn903fs",
          "transcript": "ENST00000676317.1",
          "protein_id": "ENSP00000502047.1",
          "transcript_support_level": null,
          "aa_start": 903,
          "aa_end": null,
          "aa_length": 1221,
          "cds_start": 2707,
          "cds_end": null,
          "cds_length": 3666,
          "cdna_start": 2738,
          "cdna_end": null,
          "cdna_length": 4882,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2701_2702delAA",
          "hgvs_p": "p.Asn901fs",
          "transcript": "ENST00000676847.1",
          "protein_id": "ENSP00000503336.1",
          "transcript_support_level": null,
          "aa_start": 901,
          "aa_end": null,
          "aa_length": 1219,
          "cds_start": 2701,
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          "cds_length": 3660,
          "cdna_start": 2738,
          "cdna_end": null,
          "cdna_length": 4240,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2689_2690delAA",
          "hgvs_p": "p.Asn897fs",
          "transcript": "ENST00000677592.1",
          "protein_id": "ENSP00000504516.1",
          "transcript_support_level": null,
          "aa_start": 897,
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          "aa_length": 1215,
          "cds_start": 2689,
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          "cds_length": 3648,
          "cdna_start": 2720,
          "cdna_end": null,
          "cdna_length": 4864,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2680_2681delAA",
          "hgvs_p": "p.Asn894fs",
          "transcript": "ENST00000676113.1",
          "protein_id": "ENSP00000501645.1",
          "transcript_support_level": null,
          "aa_start": 894,
          "aa_end": null,
          "aa_length": 1212,
          "cds_start": 2680,
          "cds_end": null,
          "cds_length": 3639,
          "cdna_start": 2785,
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          "cdna_length": 4176,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
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          "canonical": false,
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          "strand": true,
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          ],
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          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2641_2642delAA",
          "hgvs_p": "p.Asn881fs",
          "transcript": "NM_001363131.2",
          "protein_id": "NP_001350060.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 1199,
          "cds_start": 2641,
          "cds_end": null,
          "cds_length": 3600,
          "cdna_start": 2798,
          "cdna_end": null,
          "cdna_length": 4778,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2641_2642delAA",
          "hgvs_p": "p.Asn881fs",
          "transcript": "ENST00000675955.1",
          "protein_id": "ENSP00000501676.1",
          "transcript_support_level": null,
          "aa_start": 881,
          "aa_end": null,
          "aa_length": 1199,
          "cds_start": 2641,
          "cds_end": null,
          "cds_length": 3600,
          "cdna_start": 2812,
          "cdna_end": null,
          "cdna_length": 4208,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2608_2609delAA",
          "hgvs_p": "p.Asn870fs",
          "transcript": "NM_001364870.1",
          "protein_id": "NP_001351799.1",
          "transcript_support_level": null,
          "aa_start": 870,
          "aa_end": null,
          "aa_length": 1188,
          "cds_start": 2608,
          "cds_end": null,
          "cds_length": 3567,
          "cdna_start": 2615,
          "cdna_end": null,
          "cdna_length": 4595,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2608_2609delAA",
          "hgvs_p": "p.Asn870fs",
          "transcript": "ENST00000676882.1",
          "protein_id": "ENSP00000504342.1",
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          "cds_start": 2608,
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          "cdna_start": 2629,
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          "cdna_length": 4592,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2599_2600delAA",
          "hgvs_p": "p.Asn867fs",
          "transcript": "ENST00000678645.1",
          "protein_id": "ENSP00000504031.1",
          "transcript_support_level": null,
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          "aa_length": 1185,
          "cds_start": 2599,
          "cds_end": null,
          "cds_length": 3558,
          "cdna_start": 2725,
          "cdna_end": null,
          "cdna_length": 4121,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "c.2554_2555delAA",
          "hgvs_p": "p.Asn852fs",
          "transcript": "NM_001438330.1",
          "protein_id": "NP_001425259.1",
          "transcript_support_level": null,
          "aa_start": 852,
          "aa_end": null,
          "aa_length": 1170,
          "cds_start": 2554,
          "cds_end": null,
          "cds_length": 3513,
          "cdna_start": 2561,
          "cdna_end": null,
          "cdna_length": 4541,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "CSPP1",
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        },
        {
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        {
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          "gene_symbol": "CSPP1",
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        },
        {
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          "protein_coding": false,
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          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "CSPP1",
          "gene_hgnc_id": 26193,
          "hgvs_c": "n.*159_*160delAA",
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          "transcript": "ENST00000677455.1",
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          "cdna_length": 3022,
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        }
      ],
      "gene_symbol": "CSPP1",
      "gene_hgnc_id": 26193,
      "dbsnp": "rs863225190",
      "frequency_reference_population": 0.0000029189325,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 4,
      "gnomad_exomes_af": 0.00000291893,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 4,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "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": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": 6.283,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 10,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2",
      "acmg_by_gene": [
        {
          "score": 10,
          "benign_score": 0,
          "pathogenic_score": 10,
          "criteria": [
            "PVS1",
            "PM2"
          ],
          "verdict": "Pathogenic",
          "transcript": "ENST00000678616.1",
          "gene_symbol": "CSPP1",
          "hgnc_id": 26193,
          "effects": [
            "frameshift_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2722_2723delAA",
          "hgvs_p": "p.Asn908fs"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}