← Back to variant description
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: 19-54636584-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54636584&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54636584,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001081637.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Pro582Ser",
"transcript": "NM_001081637.3",
"protein_id": "NP_001075106.2",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 652,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324602.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081637.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Pro582Ser",
"transcript": "ENST00000324602.12",
"protein_id": "ENSP00000315997.7",
"transcript_support_level": 5,
"aa_start": 582,
"aa_end": null,
"aa_length": 652,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001081637.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324602.12"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Pro582Ser",
"transcript": "ENST00000396315.5",
"protein_id": "ENSP00000379608.1",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 652,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396315.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "ENST00000396327.7",
"protein_id": "ENSP00000379618.3",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 651,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396327.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "ENST00000396332.8",
"protein_id": "ENSP00000379623.4",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 651,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396332.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Pro580Ser",
"transcript": "ENST00000396331.5",
"protein_id": "ENSP00000379622.1",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 650,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396331.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1690C>T",
"hgvs_p": "p.Pro564Ser",
"transcript": "ENST00000396317.5",
"protein_id": "ENSP00000379610.1",
"transcript_support_level": 1,
"aa_start": 564,
"aa_end": null,
"aa_length": 634,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396317.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1891C>T",
"hgvs_p": "p.Pro631Ser",
"transcript": "ENST00000427581.6",
"protein_id": "ENSP00000395004.2",
"transcript_support_level": 5,
"aa_start": 631,
"aa_end": null,
"aa_length": 701,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427581.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1774C>T",
"hgvs_p": "p.Pro592Ser",
"transcript": "ENST00000955136.1",
"protein_id": "ENSP00000625195.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 662,
"cds_start": 1774,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955136.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Pro591Ser",
"transcript": "ENST00000890799.1",
"protein_id": "ENSP00000560858.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 661,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890799.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Pro591Ser",
"transcript": "ENST00000955144.1",
"protein_id": "ENSP00000625203.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 661,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955144.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1765C>T",
"hgvs_p": "p.Pro589Ser",
"transcript": "ENST00000955134.1",
"protein_id": "ENSP00000625193.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 659,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955134.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Pro582Ser",
"transcript": "NM_001388358.1",
"protein_id": "NP_001375287.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 652,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388358.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "NM_001081638.4",
"protein_id": "NP_001075107.2",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 651,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081638.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "NM_001081639.4",
"protein_id": "NP_001075108.2",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 651,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081639.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "NM_001388355.1",
"protein_id": "NP_001375284.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 651,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388355.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "NM_001388356.1",
"protein_id": "NP_001375285.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 651,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388356.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "NM_001388357.1",
"protein_id": "NP_001375286.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 651,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388357.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "ENST00000890795.1",
"protein_id": "ENSP00000560854.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 651,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890795.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "ENST00000890796.1",
"protein_id": "ENSP00000560855.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 651,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890796.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "ENST00000890802.1",
"protein_id": "ENSP00000560861.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 651,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890802.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "ENST00000890803.1",
"protein_id": "ENSP00000560862.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 651,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890803.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "ENST00000955139.1",
"protein_id": "ENSP00000625198.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 651,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955139.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Pro580Ser",
"transcript": "NM_006669.7",
"protein_id": "NP_006660.4",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 650,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006669.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Pro580Ser",
"transcript": "ENST00000890794.1",
"protein_id": "ENSP00000560853.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 650,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890794.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Pro580Ser",
"transcript": "ENST00000890797.1",
"protein_id": "ENSP00000560856.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 650,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890797.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Pro580Ser",
"transcript": "ENST00000890798.1",
"protein_id": "ENSP00000560857.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 650,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890798.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Pro580Ser",
"transcript": "ENST00000890800.1",
"protein_id": "ENSP00000560859.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 650,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890800.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1705C>T",
"hgvs_p": "p.Pro569Ser",
"transcript": "ENST00000955140.1",
"protein_id": "ENSP00000625199.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 639,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955140.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1693C>T",
"hgvs_p": "p.Pro565Ser",
"transcript": "ENST00000955137.1",
"protein_id": "ENSP00000625196.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 635,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955137.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1690C>T",
"hgvs_p": "p.Pro564Ser",
"transcript": "NM_001278398.2",
"protein_id": "NP_001265327.2",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 634,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278398.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1690C>T",
"hgvs_p": "p.Pro564Ser",
"transcript": "ENST00000955143.1",
"protein_id": "ENSP00000625202.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 634,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955143.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1687C>T",
"hgvs_p": "p.Pro563Ser",
"transcript": "ENST00000955138.1",
"protein_id": "ENSP00000625197.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 633,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955138.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1687C>T",
"hgvs_p": "p.Pro563Ser",
"transcript": "ENST00000955141.1",
"protein_id": "ENSP00000625200.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 633,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955141.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Pro540Ser",
"transcript": "ENST00000890801.1",
"protein_id": "ENSP00000560860.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 610,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890801.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Pro540Ser",
"transcript": "ENST00000955135.1",
"protein_id": "ENSP00000625194.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 610,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955135.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Pro540Ser",
"transcript": "ENST00000955142.1",
"protein_id": "ENSP00000625201.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 610,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955142.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1852C>T",
"hgvs_p": "p.Pro618Ser",
"transcript": "XM_047438080.1",
"protein_id": "XP_047294036.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 688,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438080.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1849C>T",
"hgvs_p": "p.Pro617Ser",
"transcript": "XM_047438081.1",
"protein_id": "XP_047294037.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 687,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438081.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1849C>T",
"hgvs_p": "p.Pro617Ser",
"transcript": "XM_047438082.1",
"protein_id": "XP_047294038.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 687,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438082.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1846C>T",
"hgvs_p": "p.Pro616Ser",
"transcript": "XM_047438083.1",
"protein_id": "XP_047294039.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 686,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438083.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1795C>T",
"hgvs_p": "p.Pro599Ser",
"transcript": "XM_047438084.1",
"protein_id": "XP_047294040.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 669,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438084.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1792C>T",
"hgvs_p": "p.Pro598Ser",
"transcript": "XM_047438085.1",
"protein_id": "XP_047294041.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 668,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438085.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1792C>T",
"hgvs_p": "p.Pro598Ser",
"transcript": "XM_047438086.1",
"protein_id": "XP_047294042.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 668,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438086.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Pro597Ser",
"transcript": "XM_047438087.1",
"protein_id": "XP_047294043.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 667,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438087.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.*132C>T",
"hgvs_p": null,
"transcript": "XM_017026192.2",
"protein_id": "XP_016881681.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": null,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026192.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.*132C>T",
"hgvs_p": null,
"transcript": "XM_047438088.1",
"protein_id": "XP_047294044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 546,
"cds_start": null,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438088.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "n.*129C>T",
"hgvs_p": null,
"transcript": "ENST00000421584.5",
"protein_id": "ENSP00000410165.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000421584.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "n.1522C>T",
"hgvs_p": null,
"transcript": "ENST00000462628.5",
"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": "pseudogene",
"feature": "ENST00000462628.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "n.1827C>T",
"hgvs_p": null,
"transcript": "NR_103518.2",
"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_103518.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "n.*129C>T",
"hgvs_p": null,
"transcript": "ENST00000421584.5",
"protein_id": "ENSP00000410165.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000421584.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LILRB1-AS1",
"gene_hgnc_id": 53114,
"hgvs_c": "n.200-508G>A",
"hgvs_p": null,
"transcript": "ENST00000456337.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000456337.1"
}
],
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"dbsnp": "rs995680547",
"frequency_reference_population": 0.00002111227,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000212572,
"gnomad_genomes_af": 0.0000197226,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.043233633041381836,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.01,
"revel_prediction": "Benign",
"alphamissense_score": 0.0755,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.126,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001081637.3",
"gene_symbol": "LILRB1",
"hgnc_id": 6605,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Pro582Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000456337.1",
"gene_symbol": "LILRB1-AS1",
"hgnc_id": 53114,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.200-508G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}