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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: 12-56586904-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56586904&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56586904,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001414460.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "NM_002898.4",
"protein_id": "NP_002889.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 407,
"cds_start": 929,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 8488,
"mane_select": "ENST00000262031.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002898.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "ENST00000262031.10",
"protein_id": "ENSP00000262031.5",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 407,
"cds_start": 929,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 8488,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "n.*535A>C",
"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": 1633,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "n.*535A>C",
"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": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000552916.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "NM_001414460.1",
"protein_id": "NP_001401389.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 429,
"cds_start": 929,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 8263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414460.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "NM_001414461.1",
"protein_id": "NP_001401390.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 407,
"cds_start": 929,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 8350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414461.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "ENST00000855893.1",
"protein_id": "ENSP00000525952.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 407,
"cds_start": 929,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 3952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855893.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "ENST00000855894.1",
"protein_id": "ENSP00000525953.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 407,
"cds_start": 929,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855894.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "ENST00000855895.1",
"protein_id": "ENSP00000525954.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 407,
"cds_start": 929,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 3848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855895.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "ENST00000855897.1",
"protein_id": "ENSP00000525956.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 407,
"cds_start": 929,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855897.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "NM_001414459.1",
"protein_id": "NP_001401388.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 388,
"cds_start": 929,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 8401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414459.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.554A>C",
"hgvs_p": "p.His185Pro",
"transcript": "ENST00000550726.5",
"protein_id": "ENSP00000449678.1",
"transcript_support_level": 2,
"aa_start": 185,
"aa_end": null,
"aa_length": 282,
"cds_start": 554,
"cds_end": null,
"cds_length": 849,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550726.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.494A>C",
"hgvs_p": "p.His165Pro",
"transcript": "ENST00000542360.1",
"protein_id": "ENSP00000443486.1",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 262,
"cds_start": 494,
"cds_end": null,
"cds_length": 789,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542360.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.122A>C",
"hgvs_p": "p.His41Pro",
"transcript": "ENST00000855896.1",
"protein_id": "ENSP00000525955.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 138,
"cds_start": 122,
"cds_end": null,
"cds_length": 417,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855896.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "XM_006719541.5",
"protein_id": "XP_006719604.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 477,
"cds_start": 929,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 7752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719541.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.872A>C",
"hgvs_p": "p.His291Pro",
"transcript": "XM_047429297.1",
"protein_id": "XP_047285253.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 458,
"cds_start": 872,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429297.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "XM_005269059.6",
"protein_id": "XP_005269116.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 448,
"cds_start": 929,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 8483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269059.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "XM_006719542.5",
"protein_id": "XP_006719605.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 448,
"cds_start": 929,
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"cdna_start": 1133,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719542.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.839A>C",
"hgvs_p": "p.His280Pro",
"transcript": "XM_024449115.2",
"protein_id": "XP_024304883.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 447,
"cds_start": 839,
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"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 7778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449115.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.839A>C",
"hgvs_p": "p.His280Pro",
"transcript": "XM_024449116.2",
"protein_id": "XP_024304884.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
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"cds_start": 839,
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"cdna_start": 959,
"cdna_end": null,
"cdna_length": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449116.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.788A>C",
"hgvs_p": "p.His263Pro",
"transcript": "XM_047429298.1",
"protein_id": "XP_047285254.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 430,
"cds_start": 788,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 7526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429298.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "XM_005269060.6",
"protein_id": "XP_005269117.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 419,
"cds_start": 929,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 8396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269060.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro",
"transcript": "XM_011538639.3",
"protein_id": "XP_011536941.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 414,
"cds_start": 929,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 8479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538639.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.554A>C",
"hgvs_p": "p.His185Pro",
"transcript": "XM_011538642.4",
"protein_id": "XP_011536944.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 352,
"cds_start": 554,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 7345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538642.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"hgvs_c": "c.874-1390A>C",
"hgvs_p": null,
"transcript": "ENST00000552247.6",
"protein_id": "ENSP00000447426.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552247.6"
}
],
"gene_symbol": "RBMS2",
"gene_hgnc_id": 9909,
"dbsnp": "rs770600714",
"frequency_reference_population": 0.0000054745924,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547459,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1052735447883606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.0422,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.538,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001414460.1",
"gene_symbol": "RBMS2",
"hgnc_id": 9909,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.929A>C",
"hgvs_p": "p.His310Pro"
}
],
"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
}