← 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: 3-47622244-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47622244&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47622244,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003074.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2744A>G",
"hgvs_p": "p.Glu915Gly",
"transcript": "NM_003074.4",
"protein_id": "NP_003065.3",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2744,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2840,
"cdna_end": null,
"cdna_length": 6354,
"mane_select": "ENST00000254480.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003074.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2744A>G",
"hgvs_p": "p.Glu915Gly",
"transcript": "ENST00000254480.10",
"protein_id": "ENSP00000254480.5",
"transcript_support_level": 1,
"aa_start": 915,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2744,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2840,
"cdna_end": null,
"cdna_length": 6354,
"mane_select": "NM_003074.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254480.10"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2876A>G",
"hgvs_p": "p.Glu959Gly",
"transcript": "ENST00000938791.1",
"protein_id": "ENSP00000608850.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2876,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 2974,
"cdna_end": null,
"cdna_length": 5864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938791.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2837A>G",
"hgvs_p": "p.Glu946Gly",
"transcript": "ENST00000855763.1",
"protein_id": "ENSP00000525822.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 2964,
"cdna_end": null,
"cdna_length": 5852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855763.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2837A>G",
"hgvs_p": "p.Glu946Gly",
"transcript": "ENST00000938807.1",
"protein_id": "ENSP00000608866.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938807.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2834A>G",
"hgvs_p": "p.Glu945Gly",
"transcript": "ENST00000938787.1",
"protein_id": "ENSP00000608846.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2834,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 2969,
"cdna_end": null,
"cdna_length": 5864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938787.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2774A>G",
"hgvs_p": "p.Glu925Gly",
"transcript": "ENST00000938802.1",
"protein_id": "ENSP00000608861.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2774,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 2841,
"cdna_end": null,
"cdna_length": 5601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938802.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2741A>G",
"hgvs_p": "p.Glu914Gly",
"transcript": "ENST00000855762.1",
"protein_id": "ENSP00000525821.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2881,
"cdna_end": null,
"cdna_length": 5769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855762.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2741A>G",
"hgvs_p": "p.Glu914Gly",
"transcript": "ENST00000855764.1",
"protein_id": "ENSP00000525823.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2840,
"cdna_end": null,
"cdna_length": 5727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855764.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2741A>G",
"hgvs_p": "p.Glu914Gly",
"transcript": "ENST00000938799.1",
"protein_id": "ENSP00000608858.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2872,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938799.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2738A>G",
"hgvs_p": "p.Glu913Gly",
"transcript": "ENST00000938801.1",
"protein_id": "ENSP00000608860.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 5588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938801.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2738A>G",
"hgvs_p": "p.Glu913Gly",
"transcript": "ENST00000938805.1",
"protein_id": "ENSP00000608864.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 5532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938805.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2735A>G",
"hgvs_p": "p.Glu912Gly",
"transcript": "ENST00000938793.1",
"protein_id": "ENSP00000608852.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2735,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 2833,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938793.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2726A>G",
"hgvs_p": "p.Glu909Gly",
"transcript": "ENST00000938790.1",
"protein_id": "ENSP00000608849.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938790.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2717A>G",
"hgvs_p": "p.Glu906Gly",
"transcript": "ENST00000938789.1",
"protein_id": "ENSP00000608848.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2717,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 2841,
"cdna_end": null,
"cdna_length": 5731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938789.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2684A>G",
"hgvs_p": "p.Glu895Gly",
"transcript": "ENST00000855770.1",
"protein_id": "ENSP00000525829.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2684,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855770.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2660A>G",
"hgvs_p": "p.Glu887Gly",
"transcript": "ENST00000938792.1",
"protein_id": "ENSP00000608851.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2660,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 2759,
"cdna_end": null,
"cdna_length": 5647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938792.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2630A>G",
"hgvs_p": "p.Glu877Gly",
"transcript": "ENST00000855765.1",
"protein_id": "ENSP00000525824.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2630,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 2758,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855765.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2630A>G",
"hgvs_p": "p.Glu877Gly",
"transcript": "ENST00000938803.1",
"protein_id": "ENSP00000608862.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2630,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 2693,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938803.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2627A>G",
"hgvs_p": "p.Glu876Gly",
"transcript": "ENST00000938795.1",
"protein_id": "ENSP00000608854.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2627,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2716,
"cdna_end": null,
"cdna_length": 5602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938795.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2624A>G",
"hgvs_p": "p.Glu875Gly",
"transcript": "ENST00000855767.1",
"protein_id": "ENSP00000525826.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2624,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 2744,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855767.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2618A>G",
"hgvs_p": "p.Glu873Gly",
"transcript": "ENST00000938794.1",
"protein_id": "ENSP00000608853.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2618,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2712,
"cdna_end": null,
"cdna_length": 5602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938794.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2615A>G",
"hgvs_p": "p.Glu872Gly",
"transcript": "ENST00000938786.1",
"protein_id": "ENSP00000608845.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2615,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2693,
"cdna_end": null,
"cdna_length": 6120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938786.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2588A>G",
"hgvs_p": "p.Glu863Gly",
"transcript": "ENST00000855766.1",
"protein_id": "ENSP00000525825.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2588,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2714,
"cdna_end": null,
"cdna_length": 5474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855766.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2585A>G",
"hgvs_p": "p.Glu862Gly",
"transcript": "ENST00000963363.1",
"protein_id": "ENSP00000633422.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2585,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963363.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2582A>G",
"hgvs_p": "p.Glu861Gly",
"transcript": "ENST00000938796.1",
"protein_id": "ENSP00000608855.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938796.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2579A>G",
"hgvs_p": "p.Glu860Gly",
"transcript": "ENST00000938804.1",
"protein_id": "ENSP00000608863.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2579,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 2642,
"cdna_end": null,
"cdna_length": 5405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938804.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2744A>G",
"hgvs_p": "p.Glu915Gly",
"transcript": "ENST00000938785.1",
"protein_id": "ENSP00000608844.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1046,
"cds_start": 2744,
"cds_end": null,
"cds_length": 3141,
"cdna_start": 2843,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938785.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2564A>G",
"hgvs_p": "p.Glu855Gly",
"transcript": "ENST00000938788.1",
"protein_id": "ENSP00000608847.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2564,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 5581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938788.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2510A>G",
"hgvs_p": "p.Glu837Gly",
"transcript": "ENST00000938798.1",
"protein_id": "ENSP00000608857.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2510,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 5463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938798.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2498A>G",
"hgvs_p": "p.Glu833Gly",
"transcript": "ENST00000963362.1",
"protein_id": "ENSP00000633421.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2498,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 2596,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963362.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2483A>G",
"hgvs_p": "p.Glu828Gly",
"transcript": "ENST00000938800.1",
"protein_id": "ENSP00000608859.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2483,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938800.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2474A>G",
"hgvs_p": "p.Glu825Gly",
"transcript": "ENST00000855768.1",
"protein_id": "ENSP00000525827.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2474,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855768.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2471A>G",
"hgvs_p": "p.Glu824Gly",
"transcript": "ENST00000938806.1",
"protein_id": "ENSP00000608865.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2471,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2621,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938806.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2456A>G",
"hgvs_p": "p.Glu819Gly",
"transcript": "ENST00000938797.1",
"protein_id": "ENSP00000608856.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2456,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 5411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "c.2321-31407A>G",
"hgvs_p": null,
"transcript": "ENST00000855769.1",
"protein_id": "ENSP00000525828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855769.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"hgvs_c": "n.2634A>G",
"hgvs_p": null,
"transcript": "ENST00000425518.5",
"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": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000425518.5"
}
],
"gene_symbol": "SMARCC1",
"gene_hgnc_id": 11104,
"dbsnp": "rs968494064",
"frequency_reference_population": 0.000013139396,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131394,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8454962968826294,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.444,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9944,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.017,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003074.4",
"gene_symbol": "SMARCC1",
"hgnc_id": 11104,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2744A>G",
"hgvs_p": "p.Glu915Gly"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}