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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: 19-54666711-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54666711&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54666711,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000695418.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Asn335Asp",
"transcript": "NM_001278426.4",
"protein_id": "NP_001265355.2",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 448,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": "ENST00000695418.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Asn335Asp",
"transcript": "ENST00000695418.1",
"protein_id": "ENSP00000511897.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 448,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": "NM_001278426.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Asn335Asp",
"transcript": "ENST00000430952.6",
"protein_id": "ENSP00000408995.2",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 447,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1006A>G",
"hgvs_p": "p.Asn336Asp",
"transcript": "NM_001394933.1",
"protein_id": "NP_001381862.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 449,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1006A>G",
"hgvs_p": "p.Asn336Asp",
"transcript": "ENST00000391733.7",
"protein_id": "ENSP00000375613.3",
"transcript_support_level": 5,
"aa_start": 336,
"aa_end": null,
"aa_length": 449,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1006A>G",
"hgvs_p": "p.Asn336Asp",
"transcript": "NM_001278428.4",
"protein_id": "NP_001265357.2",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 448,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Asn335Asp",
"transcript": "ENST00000391736.5",
"protein_id": "ENSP00000375616.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 448,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 4002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Asn335Asp",
"transcript": "NM_001278427.4",
"protein_id": "NP_001265356.2",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 447,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1000A>G",
"hgvs_p": "p.Asn334Asp",
"transcript": "NM_001394934.1",
"protein_id": "NP_001381863.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 447,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1000A>G",
"hgvs_p": "p.Asn334Asp",
"transcript": "NM_001394935.1",
"protein_id": "NP_001381864.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 446,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Asn324Asp",
"transcript": "NM_001278429.4",
"protein_id": "NP_001265358.3",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 437,
"cds_start": 970,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Asn323Asp",
"transcript": "NM_001394936.1",
"protein_id": "NP_001381865.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 436,
"cds_start": 967,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.964A>G",
"hgvs_p": "p.Asn322Asp",
"transcript": "NM_001394937.1",
"protein_id": "NP_001381866.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 435,
"cds_start": 964,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.856A>G",
"hgvs_p": "p.Asn286Asp",
"transcript": "NM_001394938.1",
"protein_id": "NP_001381867.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 399,
"cds_start": 856,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1000A>G",
"hgvs_p": "p.Asn334Asp",
"transcript": "ENST00000434286.1",
"protein_id": "ENSP00000401962.1",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 398,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 1204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Asn335Asp",
"transcript": "NM_001394939.1",
"protein_id": "NP_001381868.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 395,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Asn335Asp",
"transcript": "ENST00000391734.7",
"protein_id": "ENSP00000375614.3",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 395,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Asn335Asp",
"transcript": "XM_017026216.2",
"protein_id": "XP_016881705.2",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 448,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Asn323Asp",
"transcript": "XM_047438100.1",
"protein_id": "XP_047294056.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 435,
"cds_start": 967,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.964A>G",
"hgvs_p": "p.Asn322Asp",
"transcript": "XM_047438101.1",
"protein_id": "XP_047294057.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 434,
"cds_start": 964,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "c.745A>G",
"hgvs_p": "p.Asn249Asp",
"transcript": "XM_047438103.1",
"protein_id": "XP_047294059.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 362,
"cds_start": 745,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
"gene_hgnc_id": 6608,
"hgvs_c": "n.103A>G",
"hgvs_p": null,
"transcript": "ENST00000461262.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB4",
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"hgvs_c": "n.266A>G",
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{
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{
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],
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"computational_score_selected": 0.00002837410465872381,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
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"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.012,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -12,
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000695418.1",
"gene_symbol": "LILRB4",
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"effects": [
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"inheritance_mode": "AR",
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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
}