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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: 3-62403141-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=62403141&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 62403141,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001438347.1",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3822G>T",
          "hgvs_p": "p.Thr1274Thr",
          "transcript": "NM_003716.4",
          "protein_id": "NP_003707.2",
          "transcript_support_level": null,
          "aa_start": 1274,
          "aa_end": null,
          "aa_length": 1353,
          "cds_start": 3822,
          "cds_end": null,
          "cds_length": 4062,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000383710.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003716.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3822G>T",
          "hgvs_p": "p.Thr1274Thr",
          "transcript": "ENST00000383710.9",
          "protein_id": "ENSP00000373215.4",
          "transcript_support_level": 1,
          "aa_start": 1274,
          "aa_end": null,
          "aa_length": 1353,
          "cds_start": 3822,
          "cds_end": null,
          "cds_length": 4062,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003716.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000383710.9"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3795G>T",
          "hgvs_p": "p.Thr1265Thr",
          "transcript": "ENST00000612439.4",
          "protein_id": "ENSP00000484365.1",
          "transcript_support_level": 1,
          "aa_start": 1265,
          "aa_end": null,
          "aa_length": 1344,
          "cds_start": 3795,
          "cds_end": null,
          "cds_length": 4035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000612439.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3705G>T",
          "hgvs_p": "p.Thr1235Thr",
          "transcript": "ENST00000283269.13",
          "protein_id": "ENSP00000283269.9",
          "transcript_support_level": 1,
          "aa_start": 1235,
          "aa_end": null,
          "aa_length": 1314,
          "cds_start": 3705,
          "cds_end": null,
          "cds_length": 3945,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000283269.13"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3585G>T",
          "hgvs_p": "p.Thr1195Thr",
          "transcript": "ENST00000357948.7",
          "protein_id": "ENSP00000350632.3",
          "transcript_support_level": 1,
          "aa_start": 1195,
          "aa_end": null,
          "aa_length": 1274,
          "cds_start": 3585,
          "cds_end": null,
          "cds_length": 3825,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357948.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.795G>T",
          "hgvs_p": "p.Thr265Thr",
          "transcript": "ENST00000473635.5",
          "protein_id": "ENSP00000418889.1",
          "transcript_support_level": 1,
          "aa_start": 265,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": 795,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000473635.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3882G>T",
          "hgvs_p": "p.Thr1294Thr",
          "transcript": "NM_001438347.1",
          "protein_id": "NP_001425276.1",
          "transcript_support_level": null,
          "aa_start": 1294,
          "aa_end": null,
          "aa_length": 1373,
          "cds_start": 3882,
          "cds_end": null,
          "cds_length": 4122,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438347.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3870G>T",
          "hgvs_p": "p.Thr1290Thr",
          "transcript": "NM_001438348.1",
          "protein_id": "NP_001425277.1",
          "transcript_support_level": null,
          "aa_start": 1290,
          "aa_end": null,
          "aa_length": 1369,
          "cds_start": 3870,
          "cds_end": null,
          "cds_length": 4110,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438348.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3834G>T",
          "hgvs_p": "p.Thr1278Thr",
          "transcript": "NM_001438349.1",
          "protein_id": "NP_001425278.1",
          "transcript_support_level": null,
          "aa_start": 1278,
          "aa_end": null,
          "aa_length": 1357,
          "cds_start": 3834,
          "cds_end": null,
          "cds_length": 4074,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438349.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3801G>T",
          "hgvs_p": "p.Thr1267Thr",
          "transcript": "ENST00000951695.1",
          "protein_id": "ENSP00000621754.1",
          "transcript_support_level": null,
          "aa_start": 1267,
          "aa_end": null,
          "aa_length": 1346,
          "cds_start": 3801,
          "cds_end": null,
          "cds_length": 4041,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951695.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3795G>T",
          "hgvs_p": "p.Thr1265Thr",
          "transcript": "NM_001437891.1",
          "protein_id": "NP_001424820.1",
          "transcript_support_level": null,
          "aa_start": 1265,
          "aa_end": null,
          "aa_length": 1344,
          "cds_start": 3795,
          "cds_end": null,
          "cds_length": 4035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001437891.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3723G>T",
          "hgvs_p": "p.Thr1241Thr",
          "transcript": "NM_001438350.1",
          "protein_id": "NP_001425279.1",
          "transcript_support_level": null,
          "aa_start": 1241,
          "aa_end": null,
          "aa_length": 1320,
          "cds_start": 3723,
          "cds_end": null,
          "cds_length": 3963,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438350.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3723G>T",
          "hgvs_p": "p.Thr1241Thr",
          "transcript": "ENST00000951692.1",
          "protein_id": "ENSP00000621751.1",
          "transcript_support_level": null,
          "aa_start": 1241,
          "aa_end": null,
          "aa_length": 1320,
          "cds_start": 3723,
          "cds_end": null,
          "cds_length": 3963,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951692.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3720G>T",
          "hgvs_p": "p.Thr1240Thr",
          "transcript": "ENST00000951696.1",
          "protein_id": "ENSP00000621755.1",
          "transcript_support_level": null,
          "aa_start": 1240,
          "aa_end": null,
          "aa_length": 1319,
          "cds_start": 3720,
          "cds_end": null,
          "cds_length": 3960,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000951696.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3705G>T",
          "hgvs_p": "p.Thr1235Thr",
          "transcript": "NM_183394.3",
          "protein_id": "NP_899631.1",
          "transcript_support_level": null,
          "aa_start": 1235,
          "aa_end": null,
          "aa_length": 1314,
          "cds_start": 3705,
          "cds_end": null,
          "cds_length": 3945,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_183394.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3654G>T",
          "hgvs_p": "p.Thr1218Thr",
          "transcript": "NM_001438351.1",
          "protein_id": "NP_001425280.1",
          "transcript_support_level": null,
          "aa_start": 1218,
          "aa_end": null,
          "aa_length": 1297,
          "cds_start": 3654,
          "cds_end": null,
          "cds_length": 3894,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438351.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3654G>T",
          "hgvs_p": "p.Thr1218Thr",
          "transcript": "ENST00000951693.1",
          "protein_id": "ENSP00000621752.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "cds_start": 3654,
          "cds_end": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000951693.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
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          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3651G>T",
          "hgvs_p": "p.Thr1217Thr",
          "transcript": "ENST00000951694.1",
          "protein_id": "ENSP00000621753.1",
          "transcript_support_level": null,
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          "aa_length": 1296,
          "cds_start": 3651,
          "cds_end": null,
          "cds_length": 3891,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951694.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3636G>T",
          "hgvs_p": "p.Thr1212Thr",
          "transcript": "NM_001438352.1",
          "protein_id": "NP_001425281.1",
          "transcript_support_level": null,
          "aa_start": 1212,
          "aa_end": null,
          "aa_length": 1291,
          "cds_start": 3636,
          "cds_end": null,
          "cds_length": 3876,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438352.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "c.3636G>T",
          "hgvs_p": "p.Thr1212Thr",
          "transcript": "ENST00000935174.1",
          "protein_id": "ENSP00000605233.1",
          "transcript_support_level": null,
          "aa_start": 1212,
          "aa_end": null,
          "aa_length": 1291,
          "cds_start": 3636,
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          "exon_count": 28,
          "intron_rank": null,
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          "gene_symbol": "CADPS",
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          "hgvs_p": "p.Thr1216Thr",
          "transcript": "XM_006713378.4",
          "protein_id": "XP_006713441.2",
          "transcript_support_level": null,
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          "cds_start": 3648,
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          "cds_length": 3888,
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          "biotype": "protein_coding",
          "feature": "XM_006713378.4"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 3,
          "intron_rank": null,
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          "gene_symbol": "CADPS",
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          "hgvs_c": "n.3077G>T",
          "hgvs_p": null,
          "transcript": "ENST00000474560.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "retained_intron",
          "feature": "ENST00000474560.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADPS",
          "gene_hgnc_id": 1426,
          "hgvs_c": "n.1735G>T",
          "hgvs_p": null,
          "transcript": "ENST00000486172.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000486172.1"
        }
      ],
      "gene_symbol": "CADPS",
      "gene_hgnc_id": 1426,
      "dbsnp": "rs200558042",
      "frequency_reference_population": 6.8434935e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.84349e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.03799999877810478,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0.05000000074505806,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.038,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.51,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.08,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.05,
      "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": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 3,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001438347.1",
          "gene_symbol": "CADPS",
          "hgnc_id": 1426,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.3882G>T",
          "hgvs_p": "p.Thr1294Thr"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}