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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: 20-33288741-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=33288741&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 33288741,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_033197.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "NM_033197.3",
"protein_id": "NP_149974.2",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 484,
"cds_start": 116,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253354.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033197.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000253354.2",
"protein_id": "ENSP00000253354.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 484,
"cds_start": 116,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033197.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253354.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865835.1",
"protein_id": "ENSP00000535894.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 531,
"cds_start": 116,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865835.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000960544.1",
"protein_id": "ENSP00000630603.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 531,
"cds_start": 116,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960544.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865832.1",
"protein_id": "ENSP00000535891.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865832.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865831.1",
"protein_id": "ENSP00000535890.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 485,
"cds_start": 116,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865831.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865834.1",
"protein_id": "ENSP00000535893.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 484,
"cds_start": 116,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865834.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865836.1",
"protein_id": "ENSP00000535895.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 484,
"cds_start": 116,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865836.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865842.1",
"protein_id": "ENSP00000535901.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 484,
"cds_start": 116,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865842.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865844.1",
"protein_id": "ENSP00000535903.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 484,
"cds_start": 116,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865844.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000960538.1",
"protein_id": "ENSP00000630597.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 484,
"cds_start": 116,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960538.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000960541.1",
"protein_id": "ENSP00000630600.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 484,
"cds_start": 116,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960541.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000960542.1",
"protein_id": "ENSP00000630601.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 484,
"cds_start": 116,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960542.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865837.1",
"protein_id": "ENSP00000535896.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 483,
"cds_start": 116,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865837.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000960543.1",
"protein_id": "ENSP00000630602.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 479,
"cds_start": 116,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960543.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865840.1",
"protein_id": "ENSP00000535899.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 478,
"cds_start": 116,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865840.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865843.1",
"protein_id": "ENSP00000535902.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 458,
"cds_start": 116,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865843.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000960539.1",
"protein_id": "ENSP00000630598.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 437,
"cds_start": 116,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960539.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865838.1",
"protein_id": "ENSP00000535897.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 434,
"cds_start": 116,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865838.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865841.1",
"protein_id": "ENSP00000535900.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 434,
"cds_start": 116,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865841.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000960540.1",
"protein_id": "ENSP00000630599.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 434,
"cds_start": 116,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960540.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "BPIFB1",
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"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865833.1",
"protein_id": "ENSP00000535892.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 431,
"cds_start": 116,
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"cds_length": 1296,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865833.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000865839.1",
"protein_id": "ENSP00000535898.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 424,
"cds_start": 116,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865839.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg",
"transcript": "ENST00000423645.5",
"protein_id": "ENSP00000390471.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 146,
"cds_start": 116,
"cds_end": null,
"cds_length": 442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423645.5"
}
],
"gene_symbol": "BPIFB1",
"gene_hgnc_id": 16108,
"dbsnp": "rs61737957",
"frequency_reference_population": 0.0013995186,
"hom_count_reference_population": 36,
"allele_count_reference_population": 2258,
"gnomad_exomes_af": 0.000749395,
"gnomad_genomes_af": 0.00763955,
"gnomad_exomes_ac": 1095,
"gnomad_genomes_ac": 1163,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 19,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0028855204582214355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.06400000303983688,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.0899,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.756,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000525865142896028,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_033197.3",
"gene_symbol": "BPIFB1",
"hgnc_id": 16108,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Lys39Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}