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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: 1-226894073-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226894073&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 226894073,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000366783.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"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": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys",
"transcript": "NM_000447.3",
"protein_id": "NP_000438.2",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 448,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": "ENST00000366783.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"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": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys",
"transcript": "ENST00000366783.8",
"protein_id": "ENSP00000355747.3",
"transcript_support_level": 5,
"aa_start": 380,
"aa_end": null,
"aa_length": 448,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": "NM_000447.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys",
"transcript": "ENST00000366782.6",
"protein_id": "ENSP00000355746.2",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 448,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288674",
"gene_hgnc_id": null,
"hgvs_c": "n.1139C>A",
"hgvs_p": null,
"transcript": "ENST00000366779.6",
"protein_id": "ENSP00000355741.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys",
"transcript": "ENST00000676945.1",
"protein_id": "ENSP00000504433.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 527,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys",
"transcript": "ENST00000677599.1",
"protein_id": "ENSP00000503673.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 471,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys",
"transcript": "NM_001437537.1",
"protein_id": "NP_001424466.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 448,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys",
"transcript": "ENST00000524196.6",
"protein_id": "ENSP00000429036.2",
"transcript_support_level": 4,
"aa_start": 380,
"aa_end": null,
"aa_length": 448,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys",
"transcript": "ENST00000626989.3",
"protein_id": "ENSP00000486498.2",
"transcript_support_level": 5,
"aa_start": 380,
"aa_end": null,
"aa_length": 448,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys",
"transcript": "ENST00000677414.1",
"protein_id": "ENSP00000503116.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 448,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys",
"transcript": "ENST00000679088.1",
"protein_id": "ENSP00000504727.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 448,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 2986,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1136C>A",
"hgvs_p": "p.Thr379Lys",
"transcript": "NM_012486.3",
"protein_id": "NP_036618.2",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 447,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1136C>A",
"hgvs_p": "p.Thr379Lys",
"transcript": "ENST00000422240.6",
"protein_id": "ENSP00000403737.2",
"transcript_support_level": 2,
"aa_start": 379,
"aa_end": null,
"aa_length": 447,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1040C>A",
"hgvs_p": "p.Thr347Lys",
"transcript": "ENST00000678320.1",
"protein_id": "ENSP00000503680.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 415,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Thr236Lys",
"transcript": "ENST00000472139.2",
"protein_id": "ENSP00000427806.1",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 304,
"cds_start": 707,
"cds_end": null,
"cds_length": 915,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.704C>A",
"hgvs_p": "p.Thr235Lys",
"transcript": "ENST00000677880.1",
"protein_id": "ENSP00000503121.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 303,
"cds_start": 704,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys",
"transcript": "XM_017001835.2",
"protein_id": "XP_016857324.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 448,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys",
"transcript": "XM_047425596.1",
"protein_id": "XP_047281552.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 448,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 2941,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1136C>A",
"hgvs_p": "p.Thr379Lys",
"transcript": "XM_017001836.2",
"protein_id": "XP_016857325.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 447,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1136C>A",
"hgvs_p": "p.Thr379Lys",
"transcript": "XM_047425597.1",
"protein_id": "XP_047281553.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 447,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 2938,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.1136C>A",
"hgvs_p": "p.Thr379Lys",
"transcript": "XM_047425601.1",
"protein_id": "XP_047281557.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 447,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 3550,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "n.1777C>A",
"hgvs_p": null,
"transcript": "ENST00000471728.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
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"hgvs_c": "n.*756+2229C>A",
"hgvs_p": null,
"transcript": "ENST00000678835.1",
"protein_id": "ENSP00000504343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "n.1455+2229C>A",
"hgvs_p": null,
"transcript": "XR_007061979.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "n.1455+2229C>A",
"hgvs_p": null,
"transcript": "XR_007061980.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"dbsnp": "rs143912759",
"frequency_reference_population": 0.00006133525,
"hom_count_reference_population": 1,
"allele_count_reference_population": 99,
"gnomad_exomes_af": 0.0000649858,
"gnomad_genomes_af": 0.0000262774,
"gnomad_exomes_ac": 95,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6901019811630249,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.897,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3225,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.618,
"phylop100way_prediction": "Pathogenic",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000366783.8",
"gene_symbol": "PSEN2",
"hgnc_id": 9509,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Thr380Lys"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000366779.6",
"gene_symbol": "ENSG00000288674",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1139C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Alzheimer disease 4,PSEN2-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Alzheimer disease 4|PSEN2-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}