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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: 11-230474-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=230474&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 230474,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001370310.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.785C>A",
"hgvs_p": "p.Pro262His",
"transcript": "NM_012239.6",
"protein_id": "NP_036371.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 399,
"cds_start": 785,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382743.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012239.6"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.785C>A",
"hgvs_p": "p.Pro262His",
"transcript": "ENST00000382743.9",
"protein_id": "ENSP00000372191.4",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 399,
"cds_start": 785,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012239.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382743.9"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.785C>A",
"hgvs_p": "p.Pro262His",
"transcript": "ENST00000941617.1",
"protein_id": "ENSP00000611676.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 432,
"cds_start": 785,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941617.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.785C>A",
"hgvs_p": "p.Pro262His",
"transcript": "NM_001370310.1",
"protein_id": "NP_001357239.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 417,
"cds_start": 785,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370310.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.785C>A",
"hgvs_p": "p.Pro262His",
"transcript": "ENST00000852931.1",
"protein_id": "ENSP00000522990.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 417,
"cds_start": 785,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852931.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.719C>A",
"hgvs_p": "p.Pro240His",
"transcript": "ENST00000852939.1",
"protein_id": "ENSP00000522998.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 377,
"cds_start": 719,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852939.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.785C>A",
"hgvs_p": "p.Pro262His",
"transcript": "ENST00000934321.1",
"protein_id": "ENSP00000604380.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 363,
"cds_start": 785,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934321.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Pro198His",
"transcript": "NM_001370312.1",
"protein_id": "NP_001357241.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 353,
"cds_start": 593,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370312.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Pro198His",
"transcript": "ENST00000524564.5",
"protein_id": "ENSP00000432937.1",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 353,
"cds_start": 593,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524564.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.785C>A",
"hgvs_p": "p.Pro262His",
"transcript": "NM_001370314.1",
"protein_id": "NP_001357243.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 345,
"cds_start": 785,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370314.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.785C>A",
"hgvs_p": "p.Pro262His",
"transcript": "ENST00000532956.5",
"protein_id": "ENSP00000433077.1",
"transcript_support_level": 2,
"aa_start": 262,
"aa_end": null,
"aa_length": 345,
"cds_start": 785,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532956.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.542C>A",
"hgvs_p": "p.Pro181His",
"transcript": "ENST00000852933.1",
"protein_id": "ENSP00000522992.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 336,
"cds_start": 542,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852933.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Pro198His",
"transcript": "ENST00000852932.1",
"protein_id": "ENSP00000522991.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 335,
"cds_start": 593,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852932.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.785C>A",
"hgvs_p": "p.Pro262His",
"transcript": "ENST00000852940.1",
"protein_id": "ENSP00000522999.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 329,
"cds_start": 785,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852940.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.542C>A",
"hgvs_p": "p.Pro181His",
"transcript": "NM_001370315.1",
"protein_id": "NP_001357244.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 318,
"cds_start": 542,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370315.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.542C>A",
"hgvs_p": "p.Pro181His",
"transcript": "ENST00000525319.5",
"protein_id": "ENSP00000435464.1",
"transcript_support_level": 2,
"aa_start": 181,
"aa_end": null,
"aa_length": 318,
"cds_start": 542,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525319.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Pro153His",
"transcript": "ENST00000852942.1",
"protein_id": "ENSP00000523001.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 308,
"cds_start": 458,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852942.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "NM_001370321.1",
"protein_id": "NP_001357250.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 275,
"cds_start": 359,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370321.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "NM_001370322.1",
"protein_id": "NP_001357251.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 275,
"cds_start": 359,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370322.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "NM_001370323.1",
"protein_id": "NP_001357252.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 275,
"cds_start": 359,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370323.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Pro198His",
"transcript": "ENST00000852938.1",
"protein_id": "ENSP00000522997.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 265,
"cds_start": 593,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852938.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "NM_001017524.3",
"protein_id": "NP_001017524.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 257,
"cds_start": 359,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017524.3"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "n.135+5720C>A",
"hgvs_p": null,
"transcript": "ENST00000529937.1",
"protein_id": "ENSP00000434747.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000529937.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "n.443+2509C>A",
"hgvs_p": null,
"transcript": "ENST00000531753.5",
"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": "ENST00000531753.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "n.741+2509C>A",
"hgvs_p": null,
"transcript": "NR_163391.1",
"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_163391.1"
},
{
"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": "SIRT3",
"gene_hgnc_id": 14931,
"hgvs_c": "n.*652C>A",
"hgvs_p": null,
"transcript": "ENST00000530067.1",
"protein_id": "ENSP00000435014.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000530067.1"
}
],
"gene_symbol": "SIRT3",
"gene_hgnc_id": 14931,
"dbsnp": "rs61748606",
"frequency_reference_population": 0.0059413966,
"hom_count_reference_population": 53,
"allele_count_reference_population": 8944,
"gnomad_exomes_af": 0.00550215,
"gnomad_genomes_af": 0.00984487,
"gnomad_exomes_ac": 7445,
"gnomad_genomes_ac": 1499,
"gnomad_exomes_homalt": 40,
"gnomad_genomes_homalt": 13,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005510419607162476,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.0978,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.695,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001370310.1",
"gene_symbol": "SIRT3",
"hgnc_id": 14931,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.785C>A",
"hgvs_p": "p.Pro262His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}