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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: 11-218907-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=218907&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 218907,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001370310.1",
      "consequences": [
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.1104C>T",
          "hgvs_p": "p.His368His",
          "transcript": "NM_012239.6",
          "protein_id": "NP_036371.1",
          "transcript_support_level": null,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 1104,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": 1118,
          "cdna_end": null,
          "cdna_length": 2882,
          "mane_select": "ENST00000382743.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_012239.6"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.1104C>T",
          "hgvs_p": "p.His368His",
          "transcript": "ENST00000382743.9",
          "protein_id": "ENSP00000372191.4",
          "transcript_support_level": 1,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 1104,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": 1118,
          "cdna_end": null,
          "cdna_length": 2882,
          "mane_select": "NM_012239.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000382743.9"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.1149C>T",
          "hgvs_p": "p.His383His",
          "transcript": "ENST00000941617.1",
          "protein_id": "ENSP00000611676.1",
          "transcript_support_level": null,
          "aa_start": 383,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": 1149,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": 1152,
          "cdna_end": null,
          "cdna_length": 1861,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941617.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.1104C>T",
          "hgvs_p": "p.His368His",
          "transcript": "NM_001370310.1",
          "protein_id": "NP_001357239.1",
          "transcript_support_level": null,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 417,
          "cds_start": 1104,
          "cds_end": null,
          "cds_length": 1254,
          "cdna_start": 1118,
          "cdna_end": null,
          "cdna_length": 2936,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001370310.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.1104C>T",
          "hgvs_p": "p.His368His",
          "transcript": "ENST00000852931.1",
          "protein_id": "ENSP00000522990.1",
          "transcript_support_level": null,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 417,
          "cds_start": 1104,
          "cds_end": null,
          "cds_length": 1254,
          "cdna_start": 1164,
          "cdna_end": null,
          "cdna_length": 2984,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852931.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.1044C>T",
          "hgvs_p": "p.His348His",
          "transcript": "ENST00000852943.1",
          "protein_id": "ENSP00000523002.1",
          "transcript_support_level": null,
          "aa_start": 348,
          "aa_end": null,
          "aa_length": 379,
          "cds_start": 1044,
          "cds_end": null,
          "cds_length": 1140,
          "cdna_start": 1058,
          "cdna_end": null,
          "cdna_length": 1708,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852943.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.1038C>T",
          "hgvs_p": "p.His346His",
          "transcript": "ENST00000852939.1",
          "protein_id": "ENSP00000522998.1",
          "transcript_support_level": null,
          "aa_start": 346,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 1038,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": 1087,
          "cdna_end": null,
          "cdna_length": 1742,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000852939.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.1014C>T",
          "hgvs_p": "p.His338His",
          "transcript": "ENST00000934324.1",
          "protein_id": "ENSP00000604383.1",
          "transcript_support_level": null,
          "aa_start": 338,
          "aa_end": null,
          "aa_length": 369,
          "cds_start": 1014,
          "cds_end": null,
          "cds_length": 1110,
          "cdna_start": 1027,
          "cdna_end": null,
          "cdna_length": 1683,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000934324.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.942C>T",
          "hgvs_p": "p.His314His",
          "transcript": "ENST00000934321.1",
          "protein_id": "ENSP00000604380.1",
          "transcript_support_level": null,
          "aa_start": 314,
          "aa_end": null,
          "aa_length": 363,
          "cds_start": 942,
          "cds_end": null,
          "cds_length": 1092,
          "cdna_start": 979,
          "cdna_end": null,
          "cdna_length": 2399,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000934321.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.912C>T",
          "hgvs_p": "p.His304His",
          "transcript": "NM_001370312.1",
          "protein_id": "NP_001357241.1",
          "transcript_support_level": null,
          "aa_start": 304,
          "aa_end": null,
          "aa_length": 353,
          "cds_start": 912,
          "cds_end": null,
          "cds_length": 1062,
          "cdna_start": 926,
          "cdna_end": null,
          "cdna_length": 2744,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001370312.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.912C>T",
          "hgvs_p": "p.His304His",
          "transcript": "ENST00000524564.5",
          "protein_id": "ENSP00000432937.1",
          "transcript_support_level": 2,
          "aa_start": 304,
          "aa_end": null,
          "aa_length": 353,
          "cds_start": 912,
          "cds_end": null,
          "cds_length": 1062,
          "cdna_start": 938,
          "cdna_end": null,
          "cdna_length": 1395,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000524564.5"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.942C>T",
          "hgvs_p": "p.His314His",
          "transcript": "NM_001370314.1",
          "protein_id": "NP_001357243.1",
          "transcript_support_level": null,
          "aa_start": 314,
          "aa_end": null,
          "aa_length": 345,
          "cds_start": 942,
          "cds_end": null,
          "cds_length": 1038,
          "cdna_start": 956,
          "cdna_end": null,
          "cdna_length": 2720,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001370314.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.942C>T",
          "hgvs_p": "p.His314His",
          "transcript": "ENST00000532956.5",
          "protein_id": "ENSP00000433077.1",
          "transcript_support_level": 2,
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          "aa_end": null,
          "aa_length": 345,
          "cds_start": 942,
          "cds_end": null,
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          "cdna_start": 966,
          "cdna_end": null,
          "cdna_length": 1235,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000532956.5"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.861C>T",
          "hgvs_p": "p.His287His",
          "transcript": "ENST00000852933.1",
          "protein_id": "ENSP00000522992.1",
          "transcript_support_level": null,
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          "cds_start": 861,
          "cds_end": null,
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        },
        {
          "aa_ref": "H",
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          "consequences": [
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          ],
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.912C>T",
          "hgvs_p": "p.His304His",
          "transcript": "ENST00000852932.1",
          "protein_id": "ENSP00000522991.1",
          "transcript_support_level": null,
          "aa_start": 304,
          "aa_end": null,
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          "cds_start": 912,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": 948,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000852932.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.861C>T",
          "hgvs_p": "p.His287His",
          "transcript": "NM_001370315.1",
          "protein_id": "NP_001357244.1",
          "transcript_support_level": null,
          "aa_start": 287,
          "aa_end": null,
          "aa_length": 318,
          "cds_start": 861,
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          "cdna_start": 875,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001370315.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.861C>T",
          "hgvs_p": "p.His287His",
          "transcript": "ENST00000525319.5",
          "protein_id": "ENSP00000435464.1",
          "transcript_support_level": 2,
          "aa_start": 287,
          "aa_end": null,
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        {
          "aa_ref": "H",
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          ],
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          "exon_count": 7,
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          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.777C>T",
          "hgvs_p": "p.His259His",
          "transcript": "ENST00000852942.1",
          "protein_id": "ENSP00000523001.1",
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          "cds_start": 777,
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.678C>T",
          "hgvs_p": "p.His226His",
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          "protein_id": "NP_001357250.1",
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          "cdna_length": 2957,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001370321.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "c.678C>T",
          "hgvs_p": "p.His226His",
          "transcript": "NM_001370322.1",
          "protein_id": "NP_001357251.1",
          "transcript_support_level": null,
          "aa_start": 226,
          "aa_end": null,
          "aa_length": 275,
          "cds_start": 678,
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          "cdna_start": 1042,
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          "cdna_length": 2860,
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          "intron_rank_end": null,
          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "n.1677C>T",
          "hgvs_p": null,
          "transcript": "NR_163402.1",
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          "cds_length": null,
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          "cdna_length": 3495,
          "mane_select": null,
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          "biotype": "pseudogene",
          "feature": "NR_163402.1"
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
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          "exon_rank": 4,
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "SIRT3",
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          "hgvs_c": "n.*1510C>T",
          "hgvs_p": null,
          "transcript": "ENST00000529937.1",
          "protein_id": "ENSP00000434747.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 2627,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000529937.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
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          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "SIRT3",
          "gene_hgnc_id": 14931,
          "hgvs_c": "n.*817C>T",
          "hgvs_p": null,
          "transcript": "ENST00000532837.5",
          "protein_id": "ENSP00000433899.1",
          "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": 1588,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000532837.5"
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      ],
      "gene_symbol": "SIRT3",
      "gene_hgnc_id": 14931,
      "dbsnp": "rs74477499",
      "frequency_reference_population": 0.0016250361,
      "hom_count_reference_population": 42,
      "allele_count_reference_population": 2623,
      "gnomad_exomes_af": 0.000882423,
      "gnomad_genomes_af": 0.00875626,
      "gnomad_exomes_ac": 1290,
      "gnomad_genomes_ac": 1333,
      "gnomad_exomes_homalt": 24,
      "gnomad_genomes_homalt": 18,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8100000023841858,
      "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": -0.81,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -2.521,
      "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": -14,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -14,
          "benign_score": 14,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BP7",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001370310.1",
          "gene_symbol": "SIRT3",
          "hgnc_id": 14931,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1104C>T",
          "hgvs_p": "p.His368His"
        }
      ],
      "clinvar_disease": "SIRT3-related disorder",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "SIRT3-related disorder",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}
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