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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: 12-56571806-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56571806&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56571806,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001414460.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "NM_002898.4",
"protein_id": "NP_002889.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 407,
"cds_start": 493,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262031.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002898.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000262031.10",
"protein_id": "ENSP00000262031.5",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 407,
"cds_start": 493,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002898.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262031.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "n.*179C>T",
"hgvs_p": null,
"transcript": "ENST00000552916.5",
"protein_id": "ENSP00000450127.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000552916.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "n.*179C>T",
"hgvs_p": null,
"transcript": "ENST00000552916.5",
"protein_id": "ENSP00000450127.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000552916.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "NM_001414460.1",
"protein_id": "NP_001401389.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 429,
"cds_start": 493,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414460.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "NM_001414461.1",
"protein_id": "NP_001401390.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 407,
"cds_start": 493,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414461.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000855893.1",
"protein_id": "ENSP00000525952.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 407,
"cds_start": 493,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855893.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000855894.1",
"protein_id": "ENSP00000525953.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 407,
"cds_start": 493,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855894.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000855895.1",
"protein_id": "ENSP00000525954.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 407,
"cds_start": 493,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855895.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000855897.1",
"protein_id": "ENSP00000525956.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 407,
"cds_start": 493,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855897.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "NM_001414459.1",
"protein_id": "NP_001401388.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 388,
"cds_start": 493,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414459.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "ENST00000552247.6",
"protein_id": "ENSP00000447426.1",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 344,
"cds_start": 493,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552247.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Cys",
"transcript": "ENST00000550726.5",
"protein_id": "ENSP00000449678.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 282,
"cds_start": 118,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550726.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "XM_006719541.5",
"protein_id": "XP_006719604.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 477,
"cds_start": 493,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719541.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "XM_047429297.1",
"protein_id": "XP_047285253.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 458,
"cds_start": 436,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429297.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "XM_005269059.6",
"protein_id": "XP_005269116.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 448,
"cds_start": 493,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269059.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "XM_006719542.5",
"protein_id": "XP_006719605.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 448,
"cds_start": 493,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719542.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135Cys",
"transcript": "XM_024449115.2",
"protein_id": "XP_024304883.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 447,
"cds_start": 403,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449115.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135Cys",
"transcript": "XM_024449116.2",
"protein_id": "XP_024304884.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 447,
"cds_start": 403,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449116.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Cys",
"transcript": "XM_047429298.1",
"protein_id": "XP_047285254.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 430,
"cds_start": 352,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429298.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "XM_005269060.6",
"protein_id": "XP_005269117.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 419,
"cds_start": 493,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269060.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"transcript": "XM_011538639.3",
"protein_id": "XP_011536941.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 414,
"cds_start": 493,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538639.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
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"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Cys",
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"aa_start": 40,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538642.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "RBMS2",
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"hgvs_c": "c.493C>T",
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"transcript": "XM_005269066.5",
"protein_id": "XP_005269123.1",
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"aa_start": 165,
"aa_end": null,
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"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_005269066.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
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"hgvs_c": "c.9+1816C>T",
"hgvs_p": null,
"transcript": "ENST00000542360.1",
"protein_id": "ENSP00000443486.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542360.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "RBMS2",
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"hgvs_c": "c.67-15043C>T",
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"transcript": "ENST00000855896.1",
"protein_id": "ENSP00000525955.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
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"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855896.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "n.109C>T",
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"transcript": "ENST00000552228.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000552228.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "n.*90C>T",
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"transcript": "ENST00000549945.5",
"protein_id": null,
"transcript_support_level": 5,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000549945.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "n.*389C>T",
"hgvs_p": null,
"transcript": "ENST00000551369.5",
"protein_id": "ENSP00000447699.1",
"transcript_support_level": 4,
"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": "ENST00000551369.5"
}
],
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"dbsnp": "rs144330252",
"frequency_reference_population": 0.000008770567,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000761682,
"gnomad_genomes_af": 0.000019727,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8644253015518188,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.484,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9959,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.958,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001414460.1",
"gene_symbol": "RBMS2",
"hgnc_id": 9909,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}