← 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: 22-23825317-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23825317&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 23825317,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001362877.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.888G>T",
"hgvs_p": "p.Lys296Asn",
"transcript": "NM_003073.5",
"protein_id": "NP_003064.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 385,
"cds_start": 888,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": "ENST00000644036.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003073.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.888G>T",
"hgvs_p": "p.Lys296Asn",
"transcript": "ENST00000644036.2",
"protein_id": "ENSP00000494049.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 385,
"cds_start": 888,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": "NM_003073.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644036.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.861G>T",
"hgvs_p": "p.Lys287Asn",
"transcript": "ENST00000407422.8",
"protein_id": "ENSP00000383984.3",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 376,
"cds_start": 861,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407422.8"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.750G>T",
"hgvs_p": "p.Lys250Asn",
"transcript": "ENST00000263121.12",
"protein_id": "ENSP00000263121.8",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 750,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263121.12"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Lys314Asn",
"transcript": "NM_001362877.2",
"protein_id": "NP_001349806.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 403,
"cds_start": 942,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362877.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.939G>T",
"hgvs_p": "p.Lys313Asn",
"transcript": "ENST00000877795.1",
"protein_id": "ENSP00000547854.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 402,
"cds_start": 939,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877795.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.918G>T",
"hgvs_p": "p.Lys306Asn",
"transcript": "ENST00000877796.1",
"protein_id": "ENSP00000547855.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 395,
"cds_start": 918,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877796.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.915G>T",
"hgvs_p": "p.Lys305Asn",
"transcript": "NM_001317946.2",
"protein_id": "NP_001304875.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 394,
"cds_start": 915,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 5218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317946.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.915G>T",
"hgvs_p": "p.Lys305Asn",
"transcript": "ENST00000344921.11",
"protein_id": "ENSP00000340883.6",
"transcript_support_level": 2,
"aa_start": 305,
"aa_end": null,
"aa_length": 394,
"cds_start": 915,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344921.11"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.912G>T",
"hgvs_p": "p.Lys304Asn",
"transcript": "ENST00000877792.1",
"protein_id": "ENSP00000547851.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 393,
"cds_start": 912,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877792.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.891G>T",
"hgvs_p": "p.Lys297Asn",
"transcript": "ENST00000877797.1",
"protein_id": "ENSP00000547856.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 386,
"cds_start": 891,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877797.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.864G>T",
"hgvs_p": "p.Lys288Asn",
"transcript": "ENST00000877793.1",
"protein_id": "ENSP00000547852.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 377,
"cds_start": 864,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877793.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.861G>T",
"hgvs_p": "p.Lys287Asn",
"transcript": "NM_001007468.3",
"protein_id": "NP_001007469.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 376,
"cds_start": 861,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007468.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.858G>T",
"hgvs_p": "p.Lys286Asn",
"transcript": "ENST00000923808.1",
"protein_id": "ENSP00000593867.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 375,
"cds_start": 858,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923808.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.843G>T",
"hgvs_p": "p.Lys281Asn",
"transcript": "ENST00000948392.1",
"protein_id": "ENSP00000618451.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 370,
"cds_start": 843,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948392.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.831G>T",
"hgvs_p": "p.Lys277Asn",
"transcript": "ENST00000877791.1",
"protein_id": "ENSP00000547850.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 366,
"cds_start": 831,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877791.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.828G>T",
"hgvs_p": "p.Lys276Asn",
"transcript": "ENST00000948393.1",
"protein_id": "ENSP00000618452.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 365,
"cds_start": 828,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948393.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "c.801G>T",
"hgvs_p": "p.Lys267Asn",
"transcript": "ENST00000877794.1",
"protein_id": "ENSP00000547853.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 356,
"cds_start": 801,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.2039G>T",
"hgvs_p": null,
"transcript": "ENST00000477836.2",
"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": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477836.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*955G>T",
"hgvs_p": null,
"transcript": "ENST00000644462.1",
"protein_id": "ENSP00000494283.1",
"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": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.2210G>T",
"hgvs_p": null,
"transcript": "ENST00000645799.1",
"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": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000645799.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.3234G>T",
"hgvs_p": null,
"transcript": "ENST00000646723.1",
"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": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000646723.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.800G>T",
"hgvs_p": null,
"transcript": "ENST00000646911.1",
"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": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000646911.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*382G>T",
"hgvs_p": null,
"transcript": "ENST00000647057.1",
"protein_id": "ENSP00000494757.1",
"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": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647057.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*955G>T",
"hgvs_p": null,
"transcript": "ENST00000644462.1",
"protein_id": "ENSP00000494283.1",
"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": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"hgvs_c": "n.*382G>T",
"hgvs_p": null,
"transcript": "ENST00000647057.1",
"protein_id": "ENSP00000494757.1",
"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": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647057.1"
}
],
"gene_symbol": "SMARCB1",
"gene_hgnc_id": 11103,
"dbsnp": "rs769322487",
"frequency_reference_population": 0.0000065675404,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656754,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.295490026473999,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.268,
"revel_prediction": "Benign",
"alphamissense_score": 0.681,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.753,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001362877.2",
"gene_symbol": "SMARCB1",
"hgnc_id": 11103,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Lys314Asn"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "not provided|not specified|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}