← 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: 9-2115927-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2115927&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 2115927,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003070.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "NM_003070.5",
"protein_id": "NP_003061.3",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1590,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349721.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003070.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "ENST00000349721.8",
"protein_id": "ENSP00000265773.5",
"transcript_support_level": 5,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1590,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003070.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349721.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "ENST00000382203.5",
"protein_id": "ENSP00000371638.1",
"transcript_support_level": 1,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1590,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382203.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3388G>A",
"hgvs_p": "p.Ala1130Thr",
"transcript": "ENST00000450198.6",
"protein_id": "ENSP00000392081.2",
"transcript_support_level": 1,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1514,
"cds_start": 3388,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450198.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "NM_001289396.2",
"protein_id": "NP_001276325.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1590,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289396.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "ENST00000866697.1",
"protein_id": "ENSP00000536756.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1590,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866697.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "ENST00000915468.1",
"protein_id": "ENSP00000585527.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1590,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915468.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "ENST00000953439.1",
"protein_id": "ENSP00000623498.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1590,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953439.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "NM_139045.4",
"protein_id": "NP_620614.2",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1572,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139045.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "ENST00000357248.8",
"protein_id": "ENSP00000349788.2",
"transcript_support_level": 5,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1572,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357248.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "ENST00000382194.6",
"protein_id": "ENSP00000371629.1",
"transcript_support_level": 5,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1572,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382194.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "ENST00000866695.1",
"protein_id": "ENSP00000536754.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1572,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866695.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "ENST00000866696.1",
"protein_id": "ENSP00000536755.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1572,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866696.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "ENST00000866698.1",
"protein_id": "ENSP00000536757.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1572,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866698.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr",
"transcript": "ENST00000953438.1",
"protein_id": "ENSP00000623497.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1572,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953438.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3388G>A",
"hgvs_p": "p.Ala1130Thr",
"transcript": "NM_001289397.2",
"protein_id": "NP_001276326.1",
"transcript_support_level": null,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1514,
"cds_start": 3388,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289397.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3202G>A",
"hgvs_p": "p.Ala1068Thr",
"transcript": "ENST00000704350.1",
"protein_id": "ENSP00000515861.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1452,
"cds_start": 3202,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704350.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Ala642Thr",
"transcript": "ENST00000704355.1",
"protein_id": "ENSP00000515866.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 1026,
"cds_start": 1924,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704355.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.1174-45759G>A",
"hgvs_p": null,
"transcript": "ENST00000704353.1",
"protein_id": "ENSP00000515864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704353.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.1174-45759G>A",
"hgvs_p": null,
"transcript": "ENST00000704352.1",
"protein_id": "ENSP00000515863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704352.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.61-3531G>A",
"hgvs_p": null,
"transcript": "ENST00000634772.1",
"protein_id": "ENSP00000489518.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": null,
"cds_end": null,
"cds_length": 809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634772.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "n.3562G>A",
"hgvs_p": null,
"transcript": "ENST00000634760.1",
"protein_id": "ENSP00000489256.1",
"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": "ENST00000634760.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "n.1053G>A",
"hgvs_p": null,
"transcript": "ENST00000634925.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000634925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "n.2230G>A",
"hgvs_p": null,
"transcript": "ENST00000635739.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000635739.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "n.1169G>A",
"hgvs_p": null,
"transcript": "ENST00000636157.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000636157.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "n.596G>A",
"hgvs_p": null,
"transcript": "ENST00000638139.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000638139.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "n.*3244G>A",
"hgvs_p": null,
"transcript": "ENST00000704354.1",
"protein_id": "ENSP00000515865.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000704354.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "n.*3244G>A",
"hgvs_p": null,
"transcript": "ENST00000704354.1",
"protein_id": "ENSP00000515865.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000704354.1"
}
],
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"dbsnp": "rs281875196",
"frequency_reference_population": 6.840797e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8408e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9323141574859619,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.727,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9175,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_003070.5",
"gene_symbol": "SMARCA2",
"hgnc_id": 11098,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3562G>A",
"hgvs_p": "p.Ala1188Thr"
}
],
"clinvar_disease": "Nicolaides-Baraitser syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Nicolaides-Baraitser syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}