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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: 17-40632330-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40632330&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40632330,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000348513.12",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Thr193Thr",
"transcript": "NM_003079.5",
"protein_id": "NP_003070.3",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 411,
"cds_start": 579,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": "ENST00000348513.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Thr193Thr",
"transcript": "ENST00000348513.12",
"protein_id": "ENSP00000323967.6",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 411,
"cds_start": 579,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": "NM_003079.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Thr123Thr",
"transcript": "ENST00000578044.6",
"protein_id": "ENSP00000464511.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 341,
"cds_start": 369,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.474C>T",
"hgvs_p": "p.Thr158Thr",
"transcript": "ENST00000377808.9",
"protein_id": "ENSP00000367039.4",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 328,
"cds_start": 474,
"cds_end": null,
"cds_length": 987,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.474C>T",
"hgvs_p": "p.Thr158Thr",
"transcript": "ENST00000580419.6",
"protein_id": "ENSP00000462475.2",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 311,
"cds_start": 474,
"cds_end": null,
"cds_length": 936,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Thr123Thr",
"transcript": "ENST00000400122.8",
"protein_id": "ENSP00000411607.2",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 293,
"cds_start": 369,
"cds_end": null,
"cds_length": 882,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 2600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264058",
"gene_hgnc_id": null,
"hgvs_c": "n.*927C>T",
"hgvs_p": null,
"transcript": "ENST00000476049.1",
"protein_id": "ENSP00000463483.1",
"transcript_support_level": 5,
"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": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264058",
"gene_hgnc_id": null,
"hgvs_c": "n.*927C>T",
"hgvs_p": null,
"transcript": "ENST00000476049.1",
"protein_id": "ENSP00000463483.1",
"transcript_support_level": 5,
"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": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Thr193Thr",
"transcript": "ENST00000643683.1",
"protein_id": "ENSP00000496094.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 411,
"cds_start": 579,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.525C>T",
"hgvs_p": "p.Thr175Thr",
"transcript": "ENST00000431889.6",
"protein_id": "ENSP00000445370.1",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 393,
"cds_start": 525,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.474C>T",
"hgvs_p": "p.Thr158Thr",
"transcript": "ENST00000647508.1",
"protein_id": "ENSP00000496445.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 376,
"cds_start": 474,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Thr193Thr",
"transcript": "ENST00000646482.1",
"protein_id": "ENSP00000496661.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 367,
"cds_start": 579,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Thr193Thr",
"transcript": "ENST00000264640.9",
"protein_id": "ENSP00000466608.2",
"transcript_support_level": 3,
"aa_start": 193,
"aa_end": null,
"aa_length": 363,
"cds_start": 579,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Thr193Thr",
"transcript": "ENST00000447024.6",
"protein_id": "ENSP00000392958.2",
"transcript_support_level": 3,
"aa_start": 193,
"aa_end": null,
"aa_length": 363,
"cds_start": 579,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Thr193Thr",
"transcript": "ENST00000644701.1",
"protein_id": "ENSP00000496097.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 363,
"cds_start": 579,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Thr123Thr",
"transcript": "ENST00000646283.1",
"protein_id": "ENSP00000494537.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 347,
"cds_start": 369,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Thr123Thr",
"transcript": "ENST00000643318.1",
"protein_id": "ENSP00000494771.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 341,
"cds_start": 369,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 5796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Thr123Thr",
"transcript": "ENST00000644527.1",
"protein_id": "ENSP00000493974.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 335,
"cds_start": 369,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.474C>T",
"hgvs_p": "p.Thr158Thr",
"transcript": "ENST00000645104.1",
"protein_id": "ENSP00000496311.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 332,
"cds_start": 474,
"cds_end": null,
"cds_length": 999,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Thr123Thr",
"transcript": "ENST00000642459.1",
"protein_id": "ENSP00000496546.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 297,
"cds_start": 369,
"cds_end": null,
"cds_length": 894,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.531C>T",
"hgvs_p": "p.Thr177Thr",
"transcript": "ENST00000478349.7",
"protein_id": "ENSP00000463216.2",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 286,
"cds_start": 531,
"cds_end": null,
"cds_length": 862,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 1086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Thr123Thr",
"transcript": "ENST00000647515.1",
"protein_id": "ENSP00000495857.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 277,
"cds_start": 369,
"cds_end": null,
"cds_length": 834,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
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"transcript": "ENST00000647294.1",
"protein_id": "ENSP00000494815.1",
"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": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"hgvs_c": "n.332-637C>T",
"hgvs_p": null,
"transcript": "ENST00000644909.1",
"protein_id": "ENSP00000493649.1",
"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": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMARCE1",
"gene_hgnc_id": 11109,
"dbsnp": "rs201484943",
"frequency_reference_population": 0.000091696966,
"hom_count_reference_population": 0,
"allele_count_reference_population": 148,
"gnomad_exomes_af": 0.0000889349,
"gnomad_genomes_af": 0.000118213,
"gnomad_exomes_ac": 130,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37400001287460327,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.374,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.771,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000348513.12",
"gene_symbol": "SMARCE1",
"hgnc_id": 11109,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.579C>T",
"hgvs_p": "p.Thr193Thr"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000476049.1",
"gene_symbol": "ENSG00000264058",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*927C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Familial meningioma,Hereditary cancer-predisposing syndrome,SMARCB1-related schwannomatosis,SMARCE1-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "Familial meningioma|SMARCE1-related disorder|Hereditary cancer-predisposing syndrome|SMARCB1-related schwannomatosis|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}