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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: 5-123595128-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=123595128&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 123595128,
      "ref": "G",
      "alt": "A",
      "effect": "splice_region_variant,synonymous_variant",
      "transcript": "NM_001437477.1",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "NM_001364140.2",
          "protein_id": "NP_001351069.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000696905.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001364140.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "ENST00000696905.1",
          "protein_id": "ENSP00000512966.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001364140.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696905.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1176G>A",
          "hgvs_p": "p.Ser392Ser",
          "transcript": "ENST00000345990.9",
          "protein_id": "ENSP00000334735.5",
          "transcript_support_level": 1,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 1176,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000345990.9"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1176G>A",
          "hgvs_p": "p.Ser392Ser",
          "transcript": "ENST00000360683.6",
          "protein_id": "ENSP00000353904.2",
          "transcript_support_level": 1,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 1176,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360683.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1176G>A",
          "hgvs_p": "p.Ser392Ser",
          "transcript": "ENST00000361991.6",
          "protein_id": "ENSP00000354942.2",
          "transcript_support_level": 1,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": 1176,
          "cds_end": null,
          "cds_length": 1344,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000361991.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1254G>A",
          "hgvs_p": "p.Ser418Ser",
          "transcript": "ENST00000895972.1",
          "protein_id": "ENSP00000566031.1",
          "transcript_support_level": null,
          "aa_start": 418,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": 1254,
          "cds_end": null,
          "cds_length": 1446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895972.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1251G>A",
          "hgvs_p": "p.Ser417Ser",
          "transcript": "ENST00000895961.1",
          "protein_id": "ENSP00000566020.1",
          "transcript_support_level": null,
          "aa_start": 417,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": 1251,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895961.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1251G>A",
          "hgvs_p": "p.Ser417Ser",
          "transcript": "ENST00000895970.1",
          "protein_id": "ENSP00000566029.1",
          "transcript_support_level": null,
          "aa_start": 417,
          "aa_end": null,
          "aa_length": 472,
          "cds_start": 1251,
          "cds_end": null,
          "cds_length": 1419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895970.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1254G>A",
          "hgvs_p": "p.Ser418Ser",
          "transcript": "ENST00000895975.1",
          "protein_id": "ENSP00000566034.1",
          "transcript_support_level": null,
          "aa_start": 418,
          "aa_end": null,
          "aa_length": 471,
          "cds_start": 1254,
          "cds_end": null,
          "cds_length": 1416,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895975.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1251G>A",
          "hgvs_p": "p.Ser417Ser",
          "transcript": "ENST00000895965.1",
          "protein_id": "ENSP00000566024.1",
          "transcript_support_level": null,
          "aa_start": 417,
          "aa_end": null,
          "aa_length": 470,
          "cds_start": 1251,
          "cds_end": null,
          "cds_length": 1413,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895965.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "ENST00000962235.1",
          "protein_id": "ENSP00000632294.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962235.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "ENST00000962238.1",
          "protein_id": "ENSP00000632297.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962238.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1176G>A",
          "hgvs_p": "p.Ser392Ser",
          "transcript": "NM_001044723.3",
          "protein_id": "NP_001038188.1",
          "transcript_support_level": null,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 1176,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001044723.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "NM_001437477.1",
          "protein_id": "NP_001424406.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 454,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 1365,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001437477.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "ENST00000895958.1",
          "protein_id": "ENSP00000566017.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 454,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 1365,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895958.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "ENST00000895971.1",
          "protein_id": "ENSP00000566030.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 454,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 1365,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000895971.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1176G>A",
          "hgvs_p": "p.Ser392Ser",
          "transcript": "ENST00000962236.1",
          "protein_id": "ENSP00000632295.1",
          "transcript_support_level": null,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 454,
          "cds_start": 1176,
          "cds_end": null,
          "cds_length": 1365,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962236.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "ENST00000962237.1",
          "protein_id": "ENSP00000632296.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 454,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 1365,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962237.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1176G>A",
          "hgvs_p": "p.Ser392Ser",
          "transcript": "NM_001437479.1",
          "protein_id": "NP_001424408.1",
          "transcript_support_level": null,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 453,
          "cds_start": 1176,
          "cds_end": null,
          "cds_length": 1362,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001437479.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1176G>A",
          "hgvs_p": "p.Ser392Ser",
          "transcript": "ENST00000895954.1",
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          "exon_count": 12,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1089+3714G>A",
          "hgvs_p": null,
          "transcript": "XM_047416772.1",
          "protein_id": "XP_047272728.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 416,
          "cds_start": null,
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          "cds_length": 1251,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "XM_047416772.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
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          "exon_rank": null,
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          "intron_rank": 10,
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          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1086+3714G>A",
          "hgvs_p": null,
          "transcript": "XM_017009070.3",
          "protein_id": "XP_016864559.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": null,
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          "cds_length": 1248,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_017009070.3"
        },
        {
          "aa_ref": null,
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1086+3714G>A",
          "hgvs_p": null,
          "transcript": "XM_047416773.1",
          "protein_id": "XP_047272729.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": null,
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          "cds_length": 1248,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_047416773.1"
        },
        {
          "aa_ref": null,
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1086+3714G>A",
          "hgvs_p": null,
          "transcript": "XM_047416774.1",
          "protein_id": "XP_047272730.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": 1248,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "XM_047416774.1"
        },
        {
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CSNK1G3",
          "gene_hgnc_id": 2456,
          "hgvs_c": "c.1086+3714G>A",
          "hgvs_p": null,
          "transcript": "XM_047416775.1",
          "protein_id": "XP_047272731.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": null,
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          "cds_length": 1248,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047416775.1"
        }
      ],
      "gene_symbol": "CSNK1G3",
      "gene_hgnc_id": 2456,
      "dbsnp": "rs141285750",
      "frequency_reference_population": 0.0030957814,
      "hom_count_reference_population": 7,
      "allele_count_reference_population": 4993,
      "gnomad_exomes_af": 0.00320168,
      "gnomad_genomes_af": 0.00207832,
      "gnomad_exomes_ac": 4677,
      "gnomad_genomes_ac": 316,
      "gnomad_exomes_homalt": 7,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.3400000035762787,
      "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": -0.34,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.952,
      "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": -8,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6,BP7,BS2",
      "acmg_by_gene": [
        {
          "score": -8,
          "benign_score": 8,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6",
            "BP7",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001437477.1",
          "gene_symbol": "CSNK1G3",
          "hgnc_id": 2456,
          "effects": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "inheritance_mode": "Unknown",
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser"
        }
      ],
      "clinvar_disease": "CSNK1G3-related disorder",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "CSNK1G3-related disorder",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}