← 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: 19-10984163-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10984163&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10984163,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003072.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "NM_001387283.1",
"protein_id": "NP_001374212.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1679,
"cds_start": 12,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": null,
"mane_plus": "ENST00000646693.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000646693.2",
"protein_id": "ENSP00000495368.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1679,
"cds_start": 12,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": null,
"mane_plus": "NM_001387283.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "NM_003072.5",
"protein_id": "NP_003063.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1647,
"cds_start": 12,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": "ENST00000344626.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000344626.10",
"protein_id": "ENSP00000343896.4",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 1647,
"cds_start": 12,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": "NM_003072.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000643549.1",
"protein_id": "ENSP00000493975.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1649,
"cds_start": 12,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000541122.6",
"protein_id": "ENSP00000445036.2",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 1617,
"cds_start": 12,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 5139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000643296.1",
"protein_id": "ENSP00000496635.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1617,
"cds_start": 12,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000644737.1",
"protein_id": "ENSP00000495548.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1617,
"cds_start": 12,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 5777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000589677.5",
"protein_id": "ENSP00000464778.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 1616,
"cds_start": 12,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "NM_001128849.3",
"protein_id": "NP_001122321.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1679,
"cds_start": 12,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 5673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000711079.1",
"protein_id": "ENSP00000518564.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1679,
"cds_start": 12,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 5745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "NM_001128844.3",
"protein_id": "NP_001122316.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1647,
"cds_start": 12,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000429416.8",
"protein_id": "ENSP00000395654.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 1647,
"cds_start": 12,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "NM_001411150.1",
"protein_id": "NP_001398079.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1646,
"cds_start": 12,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000642628.1",
"protein_id": "ENSP00000496498.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1646,
"cds_start": 12,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000642726.1",
"protein_id": "ENSP00000494353.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1646,
"cds_start": 12,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "NM_001128845.2",
"protein_id": "NP_001122317.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1617,
"cds_start": 12,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 5339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "NM_001128846.2",
"protein_id": "NP_001122318.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1616,
"cds_start": 12,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "NM_001128847.4",
"protein_id": "NP_001122319.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1614,
"cds_start": 12,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "NM_001374457.1",
"protein_id": "NP_001361386.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1614,
"cds_start": 12,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 5475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000590574.6",
"protein_id": "ENSP00000466963.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 1614,
"cds_start": 12,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000646484.1",
"protein_id": "ENSP00000495536.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1614,
"cds_start": 12,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 5579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000646510.1",
"protein_id": "ENSP00000494772.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1614,
"cds_start": 12,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000647230.1",
"protein_id": "ENSP00000494676.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1614,
"cds_start": 12,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "NM_001128848.2",
"protein_id": "NP_001122320.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1613,
"cds_start": 12,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 5327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000444061.8",
"protein_id": "ENSP00000392837.2",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 1613,
"cds_start": 12,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 5393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000645460.1",
"protein_id": "ENSP00000494463.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1613,
"cds_start": 12,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 5457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000704345.1",
"protein_id": "ENSP00000515856.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1242,
"cds_start": 12,
"cds_end": null,
"cds_length": 3731,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 4148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "ENST00000644760.1",
"protein_id": "ENSP00000496682.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 156,
"cds_start": 12,
"cds_end": null,
"cds_length": 471,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_006722846.3",
"protein_id": "XP_006722909.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1679,
"cds_start": 12,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_011528198.2",
"protein_id": "XP_011526500.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1679,
"cds_start": 12,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_024451658.2",
"protein_id": "XP_024307426.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1679,
"cds_start": 12,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 5746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_047439243.1",
"protein_id": "XP_047295199.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1679,
"cds_start": 12,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_047439244.1",
"protein_id": "XP_047295200.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1647,
"cds_start": 12,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_024451661.2",
"protein_id": "XP_024307429.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1646,
"cds_start": 12,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_024451663.2",
"protein_id": "XP_024307431.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1645,
"cds_start": 12,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_047439246.1",
"protein_id": "XP_047295202.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1645,
"cds_start": 12,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 5568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_047439247.1",
"protein_id": "XP_047295203.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1614,
"cds_start": 12,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_047439248.1",
"protein_id": "XP_047295204.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1614,
"cds_start": 12,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 5750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_024451667.2",
"protein_id": "XP_024307435.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1613,
"cds_start": 12,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 5475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_047439249.1",
"protein_id": "XP_047295205.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1613,
"cds_start": 12,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_047439250.1",
"protein_id": "XP_047295206.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1613,
"cds_start": 12,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro",
"transcript": "XM_047439251.1",
"protein_id": "XP_047295207.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1613,
"cds_start": 12,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.12A>C",
"hgvs_p": null,
"transcript": "ENST00000704344.1",
"protein_id": "ENSP00000515855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.188A>C",
"hgvs_p": null,
"transcript": "NR_164683.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.-118A>C",
"hgvs_p": null,
"transcript": "ENST00000591545.6",
"protein_id": "ENSP00000496230.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1164,
"cds_start": -4,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"dbsnp": "rs2145720308",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.158,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_003072.5",
"gene_symbol": "SMARCA4",
"hgnc_id": 11100,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.12A>C",
"hgvs_p": "p.Pro4Pro"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}