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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: 19-54636748-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54636748&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54636748,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001081637.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1829C>T",
"hgvs_p": "p.Ala610Val",
"transcript": "NM_001081637.3",
"protein_id": "NP_001075106.2",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1829,
"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": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1829C>T",
"hgvs_p": "p.Ala610Val",
"transcript": "ENST00000324602.12",
"protein_id": "ENSP00000315997.7",
"transcript_support_level": 5,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1829,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1829C>T",
"hgvs_p": "p.Ala610Val",
"transcript": "ENST00000396315.5",
"protein_id": "ENSP00000379608.1",
"transcript_support_level": 1,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1829,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "ENST00000396327.7",
"protein_id": "ENSP00000379618.3",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 651,
"cds_start": 1826,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "ENST00000396332.8",
"protein_id": "ENSP00000379623.4",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 651,
"cds_start": 1826,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1823C>T",
"hgvs_p": "p.Ala608Val",
"transcript": "ENST00000396331.5",
"protein_id": "ENSP00000379622.1",
"transcript_support_level": 1,
"aa_start": 608,
"aa_end": null,
"aa_length": 650,
"cds_start": 1823,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1775C>T",
"hgvs_p": "p.Ala592Val",
"transcript": "ENST00000396317.5",
"protein_id": "ENSP00000379610.1",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 634,
"cds_start": 1775,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1976C>T",
"hgvs_p": "p.Ala659Val",
"transcript": "ENST00000427581.6",
"protein_id": "ENSP00000395004.2",
"transcript_support_level": 5,
"aa_start": 659,
"aa_end": null,
"aa_length": 701,
"cds_start": 1976,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1859C>T",
"hgvs_p": "p.Ala620Val",
"transcript": "ENST00000955136.1",
"protein_id": "ENSP00000625195.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 662,
"cds_start": 1859,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1856C>T",
"hgvs_p": "p.Ala619Val",
"transcript": "ENST00000890799.1",
"protein_id": "ENSP00000560858.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 661,
"cds_start": 1856,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1856C>T",
"hgvs_p": "p.Ala619Val",
"transcript": "ENST00000955144.1",
"protein_id": "ENSP00000625203.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 661,
"cds_start": 1856,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1850C>T",
"hgvs_p": "p.Ala617Val",
"transcript": "ENST00000955134.1",
"protein_id": "ENSP00000625193.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 659,
"cds_start": 1850,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1829C>T",
"hgvs_p": "p.Ala610Val",
"transcript": "NM_001388358.1",
"protein_id": "NP_001375287.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 652,
"cds_start": 1829,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "NM_001081638.4",
"protein_id": "NP_001075107.2",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 651,
"cds_start": 1826,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "NM_001081639.4",
"protein_id": "NP_001075108.2",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 651,
"cds_start": 1826,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "NM_001388355.1",
"protein_id": "NP_001375284.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 651,
"cds_start": 1826,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "NM_001388356.1",
"protein_id": "NP_001375285.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 651,
"cds_start": 1826,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "NM_001388357.1",
"protein_id": "NP_001375286.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 651,
"cds_start": 1826,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "ENST00000890795.1",
"protein_id": "ENSP00000560854.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 651,
"cds_start": 1826,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "ENST00000890796.1",
"protein_id": "ENSP00000560855.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 651,
"cds_start": 1826,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "ENST00000890802.1",
"protein_id": "ENSP00000560861.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 651,
"cds_start": 1826,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "ENST00000890803.1",
"protein_id": "ENSP00000560862.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 651,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "protein_coding",
"feature": "XM_047438087.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 13,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "LILRB1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000421584.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 8,
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"gene_symbol": "LILRB1",
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"hgvs_c": "n.1607C>T",
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"transcript": "ENST00000462628.5",
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"aa_end": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462628.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
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"hgvs_c": "n.1912C>T",
"hgvs_p": null,
"transcript": "NR_103518.2",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "NR_103518.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB1",
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"hgvs_c": "n.*214C>T",
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"transcript": "ENST00000421584.5",
"protein_id": "ENSP00000410165.1",
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"aa_end": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000421584.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "LILRB1-AS1",
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"hgvs_c": "n.200-672G>A",
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"transcript": "ENST00000456337.1",
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"transcript_support_level": 4,
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"cds_end": null,
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"biotype": "pseudogene",
"feature": "ENST00000456337.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 15,
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"gene_symbol": "LILRB1",
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"hgvs_c": "c.*296C>T",
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"transcript": "XM_017026192.2",
"protein_id": "XP_016881681.2",
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"aa_end": null,
"aa_length": 547,
"cds_start": null,
"cds_end": null,
"cds_length": 1644,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026192.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 15,
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"gene_symbol": "LILRB1",
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"hgvs_c": "c.*296C>T",
"hgvs_p": null,
"transcript": "XM_047438088.1",
"protein_id": "XP_047294044.1",
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"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"
}
],
"gene_symbol": "LILRB1",
"gene_hgnc_id": 6605,
"dbsnp": "rs979286427",
"frequency_reference_population": 0.000013658539,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.00000684503,
"gnomad_genomes_af": 0.0000801068,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.049666643142700195,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.1156,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.467,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001081637.3",
"gene_symbol": "LILRB1",
"hgnc_id": 6605,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1829C>T",
"hgvs_p": "p.Ala610Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000456337.1",
"gene_symbol": "LILRB1-AS1",
"hgnc_id": 53114,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.200-672G>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
}