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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: 19-4174943-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4174943&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4174943,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016539.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.742C>T",
"hgvs_p": "p.Arg248Cys",
"transcript": "NM_016539.4",
"protein_id": "NP_057623.2",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 355,
"cds_start": 742,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337491.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016539.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.742C>T",
"hgvs_p": "p.Arg248Cys",
"transcript": "ENST00000337491.7",
"protein_id": "ENSP00000337332.1",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 355,
"cds_start": 742,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016539.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337491.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.661C>T",
"hgvs_p": "p.Arg221Cys",
"transcript": "ENST00000305232.10",
"protein_id": "ENSP00000305310.5",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 328,
"cds_start": 661,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305232.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "n.*401C>T",
"hgvs_p": null,
"transcript": "ENST00000599365.5",
"protein_id": "ENSP00000473085.1",
"transcript_support_level": 1,
"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": "ENST00000599365.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "n.*401C>T",
"hgvs_p": null,
"transcript": "ENST00000599365.5",
"protein_id": "ENSP00000473085.1",
"transcript_support_level": 1,
"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": "ENST00000599365.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"transcript": "ENST00000915977.1",
"protein_id": "ENSP00000586036.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 335,
"cds_start": 682,
"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": "ENST00000915977.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.661C>T",
"hgvs_p": "p.Arg221Cys",
"transcript": "NM_001193285.3",
"protein_id": "NP_001180214.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 328,
"cds_start": 661,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193285.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187Cys",
"transcript": "NM_001321059.2",
"protein_id": "NP_001307988.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 294,
"cds_start": 559,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321059.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Cys",
"transcript": "NM_001321058.2",
"protein_id": "NP_001307987.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 283,
"cds_start": 526,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321058.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Arg174Cys",
"transcript": "ENST00000597896.5",
"protein_id": "ENSP00000470215.1",
"transcript_support_level": 3,
"aa_start": 174,
"aa_end": null,
"aa_length": 274,
"cds_start": 520,
"cds_end": null,
"cds_length": 827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597896.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "NM_001321061.2",
"protein_id": "NP_001307990.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 256,
"cds_start": 445,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321061.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000970129.1",
"protein_id": "ENSP00000640188.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 249,
"cds_start": 424,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970129.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Cys",
"transcript": "NM_001321062.2",
"protein_id": "NP_001307991.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 220,
"cds_start": 337,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321062.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Arg224Cys",
"transcript": "XM_024451539.2",
"protein_id": "XP_024307307.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 331,
"cds_start": 670,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451539.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.702C>T",
"hgvs_p": "p.Thr234Thr",
"transcript": "NM_001321060.2",
"protein_id": "NP_001307989.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 248,
"cds_start": 702,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321060.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.519C>T",
"hgvs_p": "p.Thr173Thr",
"transcript": "NM_001321063.2",
"protein_id": "NP_001307992.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 187,
"cds_start": 519,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321063.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.519C>T",
"hgvs_p": "p.Thr173Thr",
"transcript": "ENST00000601488.5",
"protein_id": "ENSP00000469001.1",
"transcript_support_level": 3,
"aa_start": 173,
"aa_end": null,
"aa_length": 187,
"cds_start": 519,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601488.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.486C>T",
"hgvs_p": "p.Thr162Thr",
"transcript": "NM_001321064.2",
"protein_id": "NP_001307993.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 176,
"cds_start": 486,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321064.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.486C>T",
"hgvs_p": "p.Thr162Thr",
"transcript": "ENST00000594279.5",
"protein_id": "ENSP00000472023.1",
"transcript_support_level": 3,
"aa_start": 162,
"aa_end": null,
"aa_length": 176,
"cds_start": 486,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594279.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "c.*73C>T",
"hgvs_p": null,
"transcript": "ENST00000601571.1",
"protein_id": "ENSP00000471837.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "n.818C>T",
"hgvs_p": null,
"transcript": "ENST00000595670.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000595670.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "n.1214C>T",
"hgvs_p": null,
"transcript": "ENST00000596119.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000596119.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
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"hgvs_c": "n.1168C>T",
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"transcript": "ENST00000600540.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000600540.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "SIRT6",
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"hgvs_c": "n.*482C>T",
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"transcript": "ENST00000600938.5",
"protein_id": "ENSP00000471123.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000600938.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "n.1195C>T",
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"transcript": "ENST00000601069.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000601069.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"hgvs_c": "n.*482C>T",
"hgvs_p": null,
"transcript": "ENST00000600938.5",
"protein_id": "ENSP00000471123.1",
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"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": "ENST00000600938.5"
}
],
"gene_symbol": "SIRT6",
"gene_hgnc_id": 14934,
"dbsnp": "rs201886868",
"frequency_reference_population": 0.000008702604,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000823842,
"gnomad_genomes_af": 0.0000131472,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3772086501121521,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.2153,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.409,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016539.4",
"gene_symbol": "SIRT6",
"hgnc_id": 14934,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.742C>T",
"hgvs_p": "p.Arg248Cys"
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}