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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: 5-180564741-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180564741&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 180564741,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "NM_001370472.1",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.557C>T",
          "hgvs_p": "p.Thr186Ile",
          "transcript": "NM_001370472.1",
          "protein_id": "NP_001357401.1",
          "transcript_support_level": null,
          "aa_start": 186,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 557,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000261951.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001370472.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.557C>T",
          "hgvs_p": "p.Thr186Ile",
          "transcript": "ENST00000261951.9",
          "protein_id": "ENSP00000261951.4",
          "transcript_support_level": 5,
          "aa_start": 186,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 557,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001370472.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000261951.9"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.557C>T",
          "hgvs_p": "p.Thr186Ile",
          "transcript": "ENST00000393356.7",
          "protein_id": "ENSP00000377024.1",
          "transcript_support_level": 1,
          "aa_start": 186,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 557,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393356.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.557C>T",
          "hgvs_p": "p.Thr186Ile",
          "transcript": "ENST00000618123.4",
          "protein_id": "ENSP00000481893.1",
          "transcript_support_level": 1,
          "aa_start": 186,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 557,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000618123.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.557C>T",
          "hgvs_p": "p.Thr186Ile",
          "transcript": "ENST00000968018.1",
          "protein_id": "ENSP00000638077.1",
          "transcript_support_level": null,
          "aa_start": 186,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 557,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968018.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.542C>T",
          "hgvs_p": "p.Thr181Ile",
          "transcript": "NM_001370473.1",
          "protein_id": "NP_001357402.1",
          "transcript_support_level": null,
          "aa_start": 181,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": 542,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001370473.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.542C>T",
          "hgvs_p": "p.Thr181Ile",
          "transcript": "ENST00000968017.1",
          "protein_id": "ENSP00000638076.1",
          "transcript_support_level": null,
          "aa_start": 181,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": 542,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968017.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.284C>T",
          "hgvs_p": "p.Thr95Ile",
          "transcript": "ENST00000968019.1",
          "protein_id": "ENSP00000638078.1",
          "transcript_support_level": null,
          "aa_start": 95,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 284,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968019.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.272C>T",
          "hgvs_p": "p.Thr91Ile",
          "transcript": "NM_001370474.1",
          "protein_id": "NP_001357403.1",
          "transcript_support_level": null,
          "aa_start": 91,
          "aa_end": null,
          "aa_length": 462,
          "cds_start": 272,
          "cds_end": null,
          "cds_length": 1389,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001370474.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.269C>T",
          "hgvs_p": "p.Thr90Ile",
          "transcript": "ENST00000504343.1",
          "protein_id": "ENSP00000422087.1",
          "transcript_support_level": 3,
          "aa_start": 90,
          "aa_end": null,
          "aa_length": 233,
          "cds_start": 269,
          "cds_end": null,
          "cds_length": 704,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000504343.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.557C>T",
          "hgvs_p": "p.Thr186Ile",
          "transcript": "XM_047417436.1",
          "protein_id": "XP_047273392.1",
          "transcript_support_level": null,
          "aa_start": 186,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 557,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047417436.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.542C>T",
          "hgvs_p": "p.Thr181Ile",
          "transcript": "XM_047417437.1",
          "protein_id": "XP_047273393.1",
          "transcript_support_level": null,
          "aa_start": 181,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": 542,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047417437.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.542C>T",
          "hgvs_p": "p.Thr181Ile",
          "transcript": "XM_047417438.1",
          "protein_id": "XP_047273394.1",
          "transcript_support_level": null,
          "aa_start": 181,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": 542,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047417438.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.272C>T",
          "hgvs_p": "p.Thr91Ile",
          "transcript": "XM_017009671.3",
          "protein_id": "XP_016865160.1",
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          "aa_start": 91,
          "aa_end": null,
          "aa_length": 462,
          "cds_start": 272,
          "cds_end": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_017009671.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.557C>T",
          "hgvs_p": "p.Thr186Ile",
          "transcript": "XM_017009672.2",
          "protein_id": "XP_016865161.1",
          "transcript_support_level": null,
          "aa_start": 186,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": 557,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017009672.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.557C>T",
          "hgvs_p": "p.Thr186Ile",
          "transcript": "XM_047417440.1",
          "protein_id": "XP_047273396.1",
          "transcript_support_level": null,
          "aa_start": 186,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": 557,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047417440.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.542C>T",
          "hgvs_p": "p.Thr181Ile",
          "transcript": "XM_047417439.1",
          "protein_id": "XP_047273395.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 423,
          "cds_start": 542,
          "cds_end": null,
          "cds_length": 1272,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "XM_047417439.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.32C>T",
          "hgvs_p": "p.Thr11Ile",
          "transcript": "XM_024446136.2",
          "protein_id": "XP_024301904.1",
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          "aa_start": 11,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": 32,
          "cds_end": null,
          "cds_length": 1149,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "XM_024446136.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.32C>T",
          "hgvs_p": "p.Thr11Ile",
          "transcript": "XM_047417441.1",
          "protein_id": "XP_047273397.1",
          "transcript_support_level": null,
          "aa_start": 11,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": 32,
          "cds_end": null,
          "cds_length": 1149,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047417441.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "c.542C>T",
          "hgvs_p": "p.Thr181Ile",
          "transcript": "XM_047417442.1",
          "protein_id": "XP_047273398.1",
          "transcript_support_level": null,
          "aa_start": 181,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": 542,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047417442.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "n.1048C>T",
          "hgvs_p": null,
          "transcript": "NR_163437.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_163437.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "n.944C>T",
          "hgvs_p": null,
          "transcript": "NR_163438.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_163438.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNOT6",
          "gene_hgnc_id": 14099,
          "hgvs_c": "n.*59C>T",
          "hgvs_p": null,
          "transcript": "ENST00000502447.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000502447.1"
        }
      ],
      "gene_symbol": "CNOT6",
      "gene_hgnc_id": 14099,
      "dbsnp": "rs373787258",
      "frequency_reference_population": 0.000006570475,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.00000657047,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.19165238738059998,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.7760000228881836,
      "splice_prediction_selected": "Pathogenic",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": 0.087,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.2409,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.37,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 7.164,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.05,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.925742722008657,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001370472.1",
          "gene_symbol": "CNOT6",
          "hgnc_id": 14099,
          "effects": [
            "missense_variant",
            "splice_region_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.557C>T",
          "hgvs_p": "p.Thr186Ile"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}