← 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: 9-2081995-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2081995&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SMARCA2",
"hgnc_id": 11098,
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"inheritance_mode": "AD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_003070.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.998,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "9",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Intellectual disability,Nicolaides-Baraitser syndrome",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9697864055633545,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 4773,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 34,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_003070.5",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000349721.8",
"protein_coding": true,
"protein_id": "NP_003061.3",
"strand": true,
"transcript": "NM_003070.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 4773,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 34,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000349721.8",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003070.5",
"protein_coding": true,
"protein_id": "ENSP00000265773.5",
"strand": true,
"transcript": "ENST00000349721.8",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5867,
"cdna_start": 2557,
"cds_end": null,
"cds_length": 4773,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 34,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000382203.5",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371638.1",
"strand": true,
"transcript": "ENST00000382203.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1514,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5602,
"cdna_start": 2570,
"cds_end": null,
"cds_length": 4545,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000450198.6",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392081.2",
"strand": true,
"transcript": "ENST00000450198.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5863,
"cdna_start": 2557,
"cds_end": null,
"cds_length": 4773,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 34,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001289396.2",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276325.1",
"strand": true,
"transcript": "NM_001289396.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6241,
"cdna_start": 2936,
"cds_end": null,
"cds_length": 4773,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 34,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000866697.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536756.1",
"strand": true,
"transcript": "ENST00000866697.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5868,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 4773,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 34,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000915468.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585527.1",
"strand": true,
"transcript": "ENST00000915468.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5771,
"cdna_start": 2513,
"cds_end": null,
"cds_length": 4773,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 34,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000953439.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623498.1",
"strand": true,
"transcript": "ENST00000953439.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5694,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 4719,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_139045.4",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620614.2",
"strand": true,
"transcript": "NM_139045.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5855,
"cdna_start": 2603,
"cds_end": null,
"cds_length": 4719,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000357248.8",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349788.2",
"strand": true,
"transcript": "ENST00000357248.8",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5679,
"cdna_start": 2470,
"cds_end": null,
"cds_length": 4719,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000382194.6",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371629.1",
"strand": true,
"transcript": "ENST00000382194.6",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5820,
"cdna_start": 2567,
"cds_end": null,
"cds_length": 4719,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000866695.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536754.1",
"strand": true,
"transcript": "ENST00000866695.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5640,
"cdna_start": 2436,
"cds_end": null,
"cds_length": 4719,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000866696.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536755.1",
"strand": true,
"transcript": "ENST00000866696.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5712,
"cdna_start": 2508,
"cds_end": null,
"cds_length": 4719,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000866698.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536757.1",
"strand": true,
"transcript": "ENST00000866698.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6084,
"cdna_start": 2880,
"cds_end": null,
"cds_length": 4719,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000953438.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623497.1",
"strand": true,
"transcript": "ENST00000953438.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1514,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5520,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 4545,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001289397.2",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276326.1",
"strand": true,
"transcript": "NM_001289397.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1452,
"aa_ref": "S",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5332,
"cdna_start": 2080,
"cds_end": null,
"cds_length": 4359,
"cds_start": 1988,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000704350.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.1988C>G",
"hgvs_p": "p.Ser663Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515861.1",
"strand": true,
"transcript": "ENST00000704350.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 2704,
"cds_end": null,
"cds_length": 3456,
"cds_start": 2348,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000637134.2",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Ser783Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489667.2",
"strand": true,
"transcript": "ENST00000637134.2",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "S",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 712,
"cds_end": null,
"cds_length": 3081,
"cds_start": 710,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000704355.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.710C>G",
"hgvs_p": "p.Ser237Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515866.1",
"strand": true,
"transcript": "ENST00000704355.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 226,
"aa_ref": "S",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 683,
"cdna_start": 358,
"cds_end": null,
"cds_length": 681,
"cds_start": 356,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000635185.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.356C>G",
"hgvs_p": "p.Ser119Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488947.1",
"strand": true,
"transcript": "ENST00000635185.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 654,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": null,
"cds_end": null,
"cds_length": 1965,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000704353.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.1173+27272C>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515864.1",
"strand": true,
"transcript": "ENST00000704353.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 636,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": null,
"cds_end": null,
"cds_length": 1911,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000704352.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.1173+27272C>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515863.1",
"strand": true,
"transcript": "ENST00000704352.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5847,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000634760.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "n.2348C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489256.1",
"strand": true,
"transcript": "ENST00000634760.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4272,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000635739.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "n.1016C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000635739.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5588,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000704354.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "n.*2030C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000515865.1",
"strand": true,
"transcript": "ENST00000704354.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5588,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 33,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000704354.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "n.*2030C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000515865.1",
"strand": true,
"transcript": "ENST00000704354.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000635129.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "n.*135C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000635129.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.78257116012039,
"dbsnp": "rs1554623112",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "Nicolaides-Baraitser syndrome|Intellectual disability",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.818,
"pos": 2081995,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.991,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.40799999237060547,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003070.5"
}
]
}