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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: 8-132572413-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132572413&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132572413,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012472.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1294G>C",
"hgvs_p": "p.Val432Leu",
"transcript": "NM_012472.6",
"protein_id": "NP_036604.2",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 466,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": "ENST00000620350.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1294G>C",
"hgvs_p": "p.Val432Leu",
"transcript": "ENST00000620350.5",
"protein_id": "ENSP00000484634.1",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 466,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": "NM_012472.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1294G>C",
"hgvs_p": "p.Val432Leu",
"transcript": "ENST00000519595.5",
"protein_id": "ENSP00000429791.1",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 466,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.*158G>C",
"hgvs_p": null,
"transcript": "ENST00000250173.5",
"protein_id": "ENSP00000250173.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": -4,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.*158G>C",
"hgvs_p": null,
"transcript": "ENST00000518642.5",
"protein_id": "ENSP00000428610.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": -4,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1234G>C",
"hgvs_p": "p.Val412Leu",
"transcript": "NM_001321961.2",
"protein_id": "NP_001308890.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 446,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1048G>C",
"hgvs_p": "p.Val350Leu",
"transcript": "NM_001321962.2",
"protein_id": "NP_001308891.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 384,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.934G>C",
"hgvs_p": "p.Val312Leu",
"transcript": "NM_001321963.2",
"protein_id": "NP_001308892.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 346,
"cds_start": 934,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.934G>C",
"hgvs_p": "p.Val312Leu",
"transcript": "NM_001321964.2",
"protein_id": "NP_001308893.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 346,
"cds_start": 934,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 4269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.934G>C",
"hgvs_p": "p.Val312Leu",
"transcript": "NM_001321965.2",
"protein_id": "NP_001308894.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 346,
"cds_start": 934,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "NM_001321966.2",
"protein_id": "NP_001308895.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 326,
"cds_start": 874,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.514G>C",
"hgvs_p": "p.Val172Leu",
"transcript": "ENST00000522789.5",
"protein_id": "ENSP00000428015.1",
"transcript_support_level": 3,
"aa_start": 172,
"aa_end": null,
"aa_length": 206,
"cds_start": 514,
"cds_end": null,
"cds_length": 621,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1312G>C",
"hgvs_p": "p.Val438Leu",
"transcript": "XM_006716538.4",
"protein_id": "XP_006716601.2",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 472,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1252G>C",
"hgvs_p": "p.Val418Leu",
"transcript": "XM_011516950.3",
"protein_id": "XP_011515252.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 452,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1192G>C",
"hgvs_p": "p.Val398Leu",
"transcript": "XM_017013296.2",
"protein_id": "XP_016868785.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 432,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.934G>C",
"hgvs_p": "p.Val312Leu",
"transcript": "XM_047421660.1",
"protein_id": "XP_047277616.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 346,
"cds_start": 934,
"cds_end": null,
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"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "n.1446G>C",
"hgvs_p": null,
"transcript": "NR_073525.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "n.1435G>C",
"hgvs_p": null,
"transcript": "NR_135905.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "n.876G>C",
"hgvs_p": null,
"transcript": "NR_135906.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "n.1122G>C",
"hgvs_p": null,
"transcript": "NR_135907.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "n.816G>C",
"hgvs_p": null,
"transcript": "NR_135908.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "n.1332G>C",
"hgvs_p": null,
"transcript": "NR_135909.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "n.1682G>C",
"hgvs_p": null,
"transcript": "NR_135910.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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{
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},
{
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"strand": true,
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],
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}
],
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.21775799989700317,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.245,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"criteria": [
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "NM_012472.6",
"gene_symbol": "DNAAF11",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Val432Leu"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}