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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-11041315-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11041315&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11041315,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001128849.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4275G>A",
"hgvs_p": "p.Glu1425Glu",
"transcript": "NM_001387283.1",
"protein_id": "NP_001374212.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4275,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000646693.2",
"biotype": "protein_coding",
"feature": "NM_001387283.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4275G>A",
"hgvs_p": "p.Glu1425Glu",
"transcript": "ENST00000646693.2",
"protein_id": "ENSP00000495368.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4275,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001387283.1",
"biotype": "protein_coding",
"feature": "ENST00000646693.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4179G>A",
"hgvs_p": "p.Glu1393Glu",
"transcript": "NM_003072.5",
"protein_id": "NP_003063.2",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4179,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344626.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003072.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4179G>A",
"hgvs_p": "p.Glu1393Glu",
"transcript": "ENST00000344626.10",
"protein_id": "ENSP00000343896.4",
"transcript_support_level": 1,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4179,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003072.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344626.10"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4185G>A",
"hgvs_p": "p.Glu1395Glu",
"transcript": "ENST00000643549.1",
"protein_id": "ENSP00000493975.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4185,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643549.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4089G>A",
"hgvs_p": "p.Glu1363Glu",
"transcript": "ENST00000541122.6",
"protein_id": "ENSP00000445036.2",
"transcript_support_level": 5,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4089,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541122.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4089G>A",
"hgvs_p": "p.Glu1363Glu",
"transcript": "ENST00000643296.1",
"protein_id": "ENSP00000496635.1",
"transcript_support_level": null,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4089,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643296.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4089G>A",
"hgvs_p": "p.Glu1363Glu",
"transcript": "ENST00000644737.1",
"protein_id": "ENSP00000495548.1",
"transcript_support_level": null,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4089,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644737.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4089G>A",
"hgvs_p": "p.Glu1363Glu",
"transcript": "ENST00000589677.5",
"protein_id": "ENSP00000464778.1",
"transcript_support_level": 5,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4089,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589677.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.3600G>A",
"hgvs_p": "p.Glu1200Glu",
"transcript": "ENST00000643995.1",
"protein_id": "ENSP00000496004.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3600,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643995.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2832G>A",
"hgvs_p": "p.Glu944Glu",
"transcript": "ENST00000644963.1",
"protein_id": "ENSP00000495599.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2832,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644963.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2814G>A",
"hgvs_p": "p.Glu938Glu",
"transcript": "ENST00000644065.1",
"protein_id": "ENSP00000493615.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2814,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644065.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2673G>A",
"hgvs_p": "p.Glu891Glu",
"transcript": "ENST00000642350.1",
"protein_id": "ENSP00000495355.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1145,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642350.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2541G>A",
"hgvs_p": "p.Glu847Glu",
"transcript": "ENST00000643857.1",
"protein_id": "ENSP00000494159.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2541,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643857.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.345G>A",
"hgvs_p": "p.Glu115Glu",
"transcript": "ENST00000538456.4",
"protein_id": "ENSP00000495197.1",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 335,
"cds_start": 345,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538456.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.2420G>A",
"hgvs_p": null,
"transcript": "ENST00000592604.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000592604.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4275G>A",
"hgvs_p": "p.Glu1425Glu",
"transcript": "NM_001128849.3",
"protein_id": "NP_001122321.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4275,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128849.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4275G>A",
"hgvs_p": "p.Glu1425Glu",
"transcript": "ENST00000711079.1",
"protein_id": "ENSP00000518564.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4275,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711079.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4275G>A",
"hgvs_p": "p.Glu1425Glu",
"transcript": "ENST00000896343.1",
"protein_id": "ENSP00000566402.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4275,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896343.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4275G>A",
"hgvs_p": "p.Glu1425Glu",
"transcript": "ENST00000924728.1",
"protein_id": "ENSP00000594787.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1669,
"cds_start": 4275,
"cds_end": null,
"cds_length": 5010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924728.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4185G>A",
"hgvs_p": "p.Glu1395Glu",
"transcript": "ENST00000924742.1",
"protein_id": "ENSP00000594801.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4185,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924742.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4185G>A",
"hgvs_p": "p.Glu1395Glu",
"transcript": "ENST00000924719.1",
"protein_id": "ENSP00000594778.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
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"aa_length": null,
"cds_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000704344.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
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"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.4569G>A",
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"transcript": "NR_164683.1",
"protein_id": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164683.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.*932G>A",
"hgvs_p": null,
"transcript": "ENST00000645648.1",
"protein_id": "ENSP00000493521.1",
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"aa_start": null,
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"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645648.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.*1859G>A",
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"transcript": "ENST00000646593.1",
"protein_id": "ENSP00000494341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646593.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.-124G>A",
"hgvs_p": null,
"transcript": "ENST00000645387.1",
"protein_id": "ENSP00000496135.1",
"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": "ENST00000645387.1"
}
],
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"dbsnp": "rs201879930",
"frequency_reference_population": 0.00056329527,
"hom_count_reference_population": 1,
"allele_count_reference_population": 907,
"gnomad_exomes_af": 0.00059195,
"gnomad_genomes_af": 0.000288953,
"gnomad_exomes_ac": 863,
"gnomad_genomes_ac": 44,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014000000432133675,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.537,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001128849.3",
"gene_symbol": "SMARCA4",
"hgnc_id": 11100,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4275G>A",
"hgvs_p": "p.Glu1425Glu"
}
],
"clinvar_disease": " autosomal dominant 16,Coffin-Siris syndrome,Hereditary cancer-predisposing syndrome,Intellectual disability,Rhabdoid tumor predisposition syndrome 2,SMARCA4-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:5",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Rhabdoid tumor predisposition syndrome 2|Coffin-Siris syndrome|not provided|Intellectual disability, autosomal dominant 16|SMARCA4-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}