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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: 2-175930075-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=175930075&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 175930075,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001305008.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Gln393Gln",
"transcript": "NM_030650.3",
"protein_id": "NP_085153.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 428,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272748.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030650.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Gln393Gln",
"transcript": "ENST00000272748.9",
"protein_id": "ENSP00000272748.4",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 428,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030650.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272748.9"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1272A>G",
"hgvs_p": "p.Gln424Gln",
"transcript": "ENST00000544803.5",
"protein_id": "ENSP00000440905.1",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 459,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544803.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.810A>G",
"hgvs_p": "p.Gln270Gln",
"transcript": "ENST00000409660.5",
"protein_id": "ENSP00000386237.1",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 305,
"cds_start": 810,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409660.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "n.638A>G",
"hgvs_p": null,
"transcript": "ENST00000479012.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000479012.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1377A>G",
"hgvs_p": "p.Gln459Gln",
"transcript": "NM_001305008.1",
"protein_id": "NP_001291937.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 494,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305008.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1296A>G",
"hgvs_p": "p.Gln432Gln",
"transcript": "ENST00000878295.1",
"protein_id": "ENSP00000548354.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 467,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878295.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1278A>G",
"hgvs_p": "p.Gln426Gln",
"transcript": "ENST00000918228.1",
"protein_id": "ENSP00000588287.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 461,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918228.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1272A>G",
"hgvs_p": "p.Gln424Gln",
"transcript": "NM_001305009.1",
"protein_id": "NP_001291938.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 459,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305009.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1185A>G",
"hgvs_p": "p.Gln395Gln",
"transcript": "NM_001305010.1",
"protein_id": "NP_001291939.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 430,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305010.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Gln393Gln",
"transcript": "ENST00000878296.1",
"protein_id": "ENSP00000548355.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 428,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878296.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1164A>G",
"hgvs_p": "p.Gln388Gln",
"transcript": "ENST00000878294.1",
"protein_id": "ENSP00000548353.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 423,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878294.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1131A>G",
"hgvs_p": "p.Gln377Gln",
"transcript": "ENST00000948632.1",
"protein_id": "ENSP00000618691.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 412,
"cds_start": 1131,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948632.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1116A>G",
"hgvs_p": "p.Gln372Gln",
"transcript": "ENST00000948634.1",
"protein_id": "ENSP00000618693.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 407,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948634.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.966A>G",
"hgvs_p": "p.Gln322Gln",
"transcript": "ENST00000948633.1",
"protein_id": "ENSP00000618692.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 357,
"cds_start": 966,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948633.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.810A>G",
"hgvs_p": "p.Gln270Gln",
"transcript": "NM_001305011.2",
"protein_id": "NP_001291940.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 305,
"cds_start": 810,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305011.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.1179A>G",
"hgvs_p": "p.Gln393Gln",
"transcript": "XM_006712783.3",
"protein_id": "XP_006712846.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 428,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712783.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.954A>G",
"hgvs_p": "p.Gln318Gln",
"transcript": "XM_005246879.5",
"protein_id": "XP_005246936.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 353,
"cds_start": 954,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246879.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.954A>G",
"hgvs_p": "p.Gln318Gln",
"transcript": "XM_047445937.1",
"protein_id": "XP_047301893.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 353,
"cds_start": 954,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445937.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.825A>G",
"hgvs_p": "p.Gln275Gln",
"transcript": "XM_005246880.4",
"protein_id": "XP_005246937.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 310,
"cds_start": 825,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246880.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.*116A>G",
"hgvs_p": null,
"transcript": "XM_005246878.5",
"protein_id": "XP_005246935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246878.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "n.*223A>G",
"hgvs_p": null,
"transcript": "ENST00000431754.1",
"protein_id": "ENSP00000388507.1",
"transcript_support_level": 5,
"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": "ENST00000431754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "n.395A>G",
"hgvs_p": null,
"transcript": "ENST00000475515.1",
"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": "ENST00000475515.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "n.1772A>G",
"hgvs_p": null,
"transcript": "NR_130941.2",
"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_130941.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "n.*223A>G",
"hgvs_p": null,
"transcript": "ENST00000431754.1",
"protein_id": "ENSP00000388507.1",
"transcript_support_level": 5,
"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": "ENST00000431754.1"
}
],
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"dbsnp": "rs556834285",
"frequency_reference_population": 0.00022798179,
"hom_count_reference_population": 2,
"allele_count_reference_population": 368,
"gnomad_exomes_af": 0.000238742,
"gnomad_genomes_af": 0.000124726,
"gnomad_exomes_ac": 349,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.075,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001305008.1",
"gene_symbol": "LNPK",
"hgnc_id": 21610,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1377A>G",
"hgvs_p": "p.Gln459Gln"
}
],
"clinvar_disease": "LNPK-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "LNPK-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}