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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: 9-2161868-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2161868&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 2161868,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000349721.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asn1388Asn",
"transcript": "NM_003070.5",
"protein_id": "NP_003061.3",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 4258,
"cdna_end": null,
"cdna_length": 5748,
"mane_select": "ENST00000349721.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asn1388Asn",
"transcript": "ENST00000349721.8",
"protein_id": "ENSP00000265773.5",
"transcript_support_level": 5,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 4258,
"cdna_end": null,
"cdna_length": 5748,
"mane_select": "NM_003070.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asn1388Asn",
"transcript": "ENST00000382203.5",
"protein_id": "ENSP00000371638.1",
"transcript_support_level": 1,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 4373,
"cdna_end": null,
"cdna_length": 5867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3990C>T",
"hgvs_p": "p.Asn1330Asn",
"transcript": "ENST00000450198.6",
"protein_id": "ENSP00000392081.2",
"transcript_support_level": 1,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1514,
"cds_start": 3990,
"cds_end": null,
"cds_length": 4545,
"cdna_start": 4212,
"cdna_end": null,
"cdna_length": 5602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.228C>T",
"hgvs_p": "p.Asn76Asn",
"transcript": "ENST00000634781.1",
"protein_id": "ENSP00000489302.1",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 260,
"cds_start": 228,
"cds_end": null,
"cds_length": 783,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 1106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asn1388Asn",
"transcript": "NM_001289396.2",
"protein_id": "NP_001276325.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 4373,
"cdna_end": null,
"cdna_length": 5863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asn1388Asn",
"transcript": "NM_139045.4",
"protein_id": "NP_620614.2",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 4258,
"cdna_end": null,
"cdna_length": 5694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asn1388Asn",
"transcript": "ENST00000357248.8",
"protein_id": "ENSP00000349788.2",
"transcript_support_level": 5,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 4419,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asn1388Asn",
"transcript": "ENST00000382194.6",
"protein_id": "ENSP00000371629.1",
"transcript_support_level": 5,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 4286,
"cdna_end": null,
"cdna_length": 5679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3990C>T",
"hgvs_p": "p.Asn1330Asn",
"transcript": "NM_001289397.2",
"protein_id": "NP_001276326.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1514,
"cds_start": 3990,
"cds_end": null,
"cds_length": 4545,
"cdna_start": 4084,
"cdna_end": null,
"cdna_length": 5520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3804C>T",
"hgvs_p": "p.Asn1268Asn",
"transcript": "ENST00000704350.1",
"protein_id": "ENSP00000515861.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1452,
"cds_start": 3804,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 3896,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.Asn842Asn",
"transcript": "ENST00000704355.1",
"protein_id": "ENSP00000515866.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2528,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Asn452Asn",
"transcript": "ENST00000704353.1",
"protein_id": "ENSP00000515864.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 654,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Asn452Asn",
"transcript": "ENST00000704352.1",
"protein_id": "ENSP00000515863.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 636,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.282C>T",
"hgvs_p": "p.Asn94Asn",
"transcript": "NM_001289400.2",
"protein_id": "NP_001276329.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 278,
"cds_start": 282,
"cds_end": null,
"cds_length": 837,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.282C>T",
"hgvs_p": "p.Asn94Asn",
"transcript": "ENST00000302401.8",
"protein_id": "ENSP00000305411.3",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 278,
"cds_start": 282,
"cds_end": null,
"cds_length": 837,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "NM_001289399.2",
"protein_id": "NP_001276328.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 276,
"cds_start": 276,
"cds_end": null,
"cds_length": 831,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "ENST00000382185.6",
"protein_id": "ENSP00000371620.2",
"transcript_support_level": 2,
"aa_start": 92,
"aa_end": null,
"aa_length": 276,
"cds_start": 276,
"cds_end": null,
"cds_length": 831,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Asn92Asn",
"transcript": "ENST00000417599.6",
"protein_id": "ENSP00000387486.2",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
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"cds_start": 276,
"cds_end": null,
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"cdna_start": 406,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Asn90Asn",
"transcript": "ENST00000639760.2",
"protein_id": "ENSP00000492585.2",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 270,
"cds_start": 270,
"cds_end": null,
"cds_length": 813,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.540C>T",
"hgvs_p": "p.Asn180Asn",
"transcript": "ENST00000634772.1",
"protein_id": "ENSP00000489518.1",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 268,
"cds_start": 540,
"cds_end": null,
"cds_length": 809,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.156C>T",
"hgvs_p": "p.Asn52Asn",
"transcript": "ENST00000382186.6",
"protein_id": "ENSP00000371621.1",
"transcript_support_level": 3,
"aa_start": 52,
"aa_end": null,
"aa_length": 254,
"cds_start": 156,
"cds_end": null,
"cds_length": 765,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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],
"exon_rank": 28,
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"exon_count": 33,
"intron_rank": null,
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"gene_symbol": "SMARCA2",
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"transcript": "ENST00000704354.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 9,
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"transcript": "ENST00000634989.1",
"protein_id": "ENSP00000489100.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"exon_rank": 4,
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"gene_symbol": "SMARCA2",
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"transcript": "ENST00000635590.1",
"protein_id": "ENSP00000489587.1",
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"aa_end": null,
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"cds_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
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"exon_rank": 2,
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"exon_count": 6,
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"gene_symbol": "SMARCA2",
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"hgvs_c": "n.*133C>T",
"hgvs_p": null,
"transcript": "ENST00000635659.1",
"protein_id": "ENSP00000489334.1",
"transcript_support_level": 5,
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"cds_start": -4,
"cds_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SMARCA2",
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"transcript": "ENST00000636367.1",
"protein_id": "ENSP00000489942.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
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"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
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"transcript": "ENST00000704354.1",
"protein_id": "ENSP00000515865.1",
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"cds_end": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "SMARCA2",
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"transcript": "ENST00000634925.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "SMARCA2",
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"hgvs_c": "n.*25C>T",
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"transcript": "ENST00000635397.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "n.*166C>T",
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"transcript": "ENST00000637856.1",
"protein_id": null,
"transcript_support_level": 5,
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"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"dbsnp": "rs759832527",
"frequency_reference_population": 0.00002044711,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000218921,
"gnomad_genomes_af": 0.00000657004,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"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": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.109,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000349721.8",
"gene_symbol": "SMARCA2",
"hgnc_id": 11098,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asn1388Asn"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}