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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: 8-1956817-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=1956817&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 1956817,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000349830.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.His1197Tyr",
"transcript": "NM_014629.4",
"protein_id": "NP_055444.2",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3589,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 3824,
"cdna_end": null,
"cdna_length": 5648,
"mane_select": "ENST00000349830.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.His1197Tyr",
"transcript": "ENST00000349830.8",
"protein_id": "ENSP00000340297.3",
"transcript_support_level": 1,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3589,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 3824,
"cdna_end": null,
"cdna_length": 5648,
"mane_select": "NM_014629.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3661C>T",
"hgvs_p": "p.His1221Tyr",
"transcript": "ENST00000518288.5",
"protein_id": "ENSP00000431012.1",
"transcript_support_level": 1,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3661,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 3824,
"cdna_end": null,
"cdna_length": 5648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3475C>T",
"hgvs_p": "p.His1159Tyr",
"transcript": "ENST00000520359.5",
"protein_id": "ENSP00000427909.1",
"transcript_support_level": 1,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3475,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 3648,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.2521C>T",
"hgvs_p": "p.His841Tyr",
"transcript": "ENST00000522435.5",
"protein_id": "ENSP00000427768.1",
"transcript_support_level": 1,
"aa_start": 841,
"aa_end": null,
"aa_length": 988,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD11-OT1",
"gene_hgnc_id": null,
"hgvs_c": "n.*3543C>T",
"hgvs_p": null,
"transcript": "ENST00000635855.1",
"protein_id": "ENSP00000489726.1",
"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": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD11-OT1",
"gene_hgnc_id": null,
"hgvs_c": "n.*3543C>T",
"hgvs_p": null,
"transcript": "ENST00000635855.1",
"protein_id": "ENSP00000489726.1",
"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": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3664C>T",
"hgvs_p": "p.His1222Tyr",
"transcript": "ENST00000398564.5",
"protein_id": "ENSP00000381571.1",
"transcript_support_level": 5,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3664,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3664,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3592C>T",
"hgvs_p": "p.His1198Tyr",
"transcript": "NM_001438091.1",
"protein_id": "NP_001425020.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1345,
"cds_start": 3592,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 3827,
"cdna_end": null,
"cdna_length": 5651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.His1197Tyr",
"transcript": "NM_001308153.3",
"protein_id": "NP_001295082.2",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3589,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 3913,
"cdna_end": null,
"cdna_length": 5602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3475C>T",
"hgvs_p": "p.His1159Tyr",
"transcript": "NM_001308152.2",
"protein_id": "NP_001295081.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3475,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 3710,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3472C>T",
"hgvs_p": "p.His1158Tyr",
"transcript": "NM_001438092.1",
"protein_id": "NP_001425021.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3472,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 3662,
"cdna_end": null,
"cdna_length": 5486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3472C>T",
"hgvs_p": "p.His1158Tyr",
"transcript": "NM_001438093.1",
"protein_id": "NP_001425022.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3472,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 3707,
"cdna_end": null,
"cdna_length": 5531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3352C>T",
"hgvs_p": "p.His1118Tyr",
"transcript": "NM_001438094.1",
"protein_id": "NP_001425023.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3352,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 3587,
"cdna_end": null,
"cdna_length": 5411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3676C>T",
"hgvs_p": "p.His1226Tyr",
"transcript": "XM_024447335.2",
"protein_id": "XP_024303103.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3676,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 3768,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3664C>T",
"hgvs_p": "p.His1222Tyr",
"transcript": "XM_017014003.2",
"protein_id": "XP_016869492.1",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3664,
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"cdna_start": 3728,
"cdna_end": null,
"cdna_length": 5552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3592C>T",
"hgvs_p": "p.His1198Tyr",
"transcript": "XM_047422450.1",
"protein_id": "XP_047278406.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1345,
"cds_start": 3592,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 3788,
"cdna_end": null,
"cdna_length": 5612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.His1197Tyr",
"transcript": "XM_047422452.1",
"protein_id": "XP_047278408.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3589,
"cds_end": null,
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"cdna_start": 3794,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3475C>T",
"hgvs_p": "p.His1159Tyr",
"transcript": "XM_047422449.1",
"protein_id": "XP_047278405.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
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"cds_start": 3475,
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"cdna_start": 3551,
"cdna_end": null,
"cdna_length": 5375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3475C>T",
"hgvs_p": "p.His1159Tyr",
"transcript": "XM_047422454.1",
"protein_id": "XP_047278410.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3475,
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"cdna_start": 3671,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3472C>T",
"hgvs_p": "p.His1158Tyr",
"transcript": "XM_047422456.1",
"protein_id": "XP_047278412.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3472,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 3656,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"hgvs_c": "c.3469C>T",
"hgvs_p": "p.His1157Tyr",
"transcript": "XM_011534768.1",
"protein_id": "XP_011533070.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 3516,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
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"gene_symbol": "ARHGEF10",
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"hgvs_c": "c.3469C>T",
"hgvs_p": "p.His1157Tyr",
"transcript": "XM_047422451.1",
"protein_id": "XP_047278407.1",
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"aa_start": 1157,
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"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 27,
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"gene_symbol": "ARHGEF10",
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"hgvs_c": "c.3427C>T",
"hgvs_p": "p.His1143Tyr",
"transcript": "XM_047422458.1",
"protein_id": "XP_047278414.1",
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"aa_start": 1143,
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"aa_length": 1290,
"cds_start": 3427,
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"cdna_start": 3623,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
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"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "ARHGEF10",
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"hgvs_c": "c.3716C>T",
"hgvs_p": "p.Ala1239Val",
"transcript": "XM_047422453.1",
"protein_id": "XP_047278409.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1277,
"cds_start": 3716,
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"cds_length": 3834,
"cdna_start": 3763,
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"feature": null
},
{
"aa_ref": "H",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
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"exon_count": 21,
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"gene_symbol": "ARHGEF10",
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"hgvs_c": "c.2803C>T",
"hgvs_p": "p.His935Tyr",
"transcript": "XM_047422462.1",
"protein_id": "XP_047278418.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2803,
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"cds_length": 3249,
"cdna_start": 2803,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "ARHGEF10",
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"hgvs_c": "n.426C>T",
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"transcript": "ENST00000521927.1",
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"transcript_support_level": 5,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
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"gene_symbol": "KBTBD11-OT1",
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"hgvs_c": "n.*3609C>T",
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"transcript": "ENST00000635773.1",
"protein_id": "ENSP00000490620.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
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"exon_count": 28,
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"gene_symbol": "KBTBD11-OT1",
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"hgvs_c": "n.*3609C>T",
"hgvs_p": null,
"transcript": "ENST00000635773.1",
"protein_id": "ENSP00000490620.1",
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 5844,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGEF10",
"gene_hgnc_id": 14103,
"dbsnp": "rs200779877",
"frequency_reference_population": 0.00032342528,
"hom_count_reference_population": 3,
"allele_count_reference_population": 522,
"gnomad_exomes_af": 0.000330422,
"gnomad_genomes_af": 0.000256232,
"gnomad_exomes_ac": 483,
"gnomad_genomes_ac": 39,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020022720098495483,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.0833,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.027,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000349830.8",
"gene_symbol": "ARHGEF10",
"hgnc_id": 14103,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.His1197Tyr"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000635855.1",
"gene_symbol": "KBTBD11-OT1",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*3543C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}