← Back to variant description
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: 8-1882669-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=1882669&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARHGEF10",
"hgnc_id": 14103,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Ile",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001438091.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "KBTBD11-OT1",
"hgnc_id": null,
"hgvs_c": "n.*949C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000635855.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9338,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "8",
"clinvar_classification": "no classifications from unflagged records",
"clinvar_disease": "Autosomal dominant slowed nerve conduction velocity",
"clinvar_review_status": "no classifications from unflagged records",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7088285088539124,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "T",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5648,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 4035,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_014629.4",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Thr332Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000349830.8",
"protein_coding": true,
"protein_id": "NP_055444.2",
"strand": true,
"transcript": "NM_014629.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "T",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5648,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 4035,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000349830.8",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Thr332Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014629.4",
"protein_coding": true,
"protein_id": "ENSP00000340297.3",
"strand": true,
"transcript": "ENST00000349830.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1368,
"aa_ref": "T",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5648,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 4107,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000518288.5",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Thr357Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431012.1",
"strand": true,
"transcript": "ENST00000518288.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5472,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 3921,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000520359.5",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427909.1",
"strand": true,
"transcript": "ENST00000520359.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 988,
"aa_ref": "T",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4343,
"cdna_start": 14,
"cds_end": null,
"cds_length": 2967,
"cds_start": 14,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000522435.5",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Thr5Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427768.1",
"strand": true,
"transcript": "ENST00000522435.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 380,
"aa_ref": "T",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 750,
"cds_end": null,
"cds_length": 1143,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000398560.2",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381568.2",
"strand": true,
"transcript": "ENST00000398560.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000523711.5",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "n.719C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000523711.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 6169,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000635855.1",
"gene_hgnc_id": null,
"gene_symbol": "KBTBD11-OT1",
"hgvs_c": "n.*949C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489726.1",
"strand": true,
"transcript": "ENST00000635855.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 6169,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 30,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000635855.1",
"gene_hgnc_id": null,
"gene_symbol": "KBTBD11-OT1",
"hgvs_c": "n.*949C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489726.1",
"strand": true,
"transcript": "ENST00000635855.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "T",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5480,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 4110,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000398564.5",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Thr357Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381571.1",
"strand": true,
"transcript": "ENST00000398564.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1345,
"aa_ref": "T",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5651,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 4038,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001438091.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425020.1",
"strand": true,
"transcript": "NM_001438091.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1345,
"aa_ref": "T",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 4038,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862863.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532922.1",
"strand": true,
"transcript": "ENST00000862863.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1345,
"aa_ref": "T",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5652,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 4038,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926730.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596789.1",
"strand": true,
"transcript": "ENST00000926730.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "T",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5602,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 4035,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001308153.3",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295082.2",
"strand": true,
"transcript": "NM_001308153.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "T",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5575,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 4035,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862865.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Thr332Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532924.1",
"strand": true,
"transcript": "ENST00000862865.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "T",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5499,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 4020,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000926735.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.980C>T",
"hgvs_p": "p.Thr327Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596794.1",
"strand": true,
"transcript": "ENST00000926735.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1318,
"aa_ref": "T",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5537,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 3957,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926733.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Thr332Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596792.1",
"strand": true,
"transcript": "ENST00000926733.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5534,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 3921,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001308152.2",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295081.1",
"strand": true,
"transcript": "NM_001308152.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5726,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 3921,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000926736.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596795.1",
"strand": true,
"transcript": "ENST00000926736.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5486,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 3918,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001438092.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425021.1",
"strand": true,
"transcript": "NM_001438092.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "T",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5531,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 3918,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001438093.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Thr293Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425022.1",
"strand": true,
"transcript": "NM_001438093.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "T",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5510,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 3918,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000862866.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Thr293Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532925.1",
"strand": true,
"transcript": "ENST00000862866.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "T",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 3918,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000926731.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Thr293Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596790.1",
"strand": true,
"transcript": "ENST00000926731.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1304,
"aa_ref": "T",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5483,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 3915,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000862864.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532923.1",
"strand": true,
"transcript": "ENST00000862864.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1304,
"aa_ref": "T",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5509,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 3915,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000926732.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Thr293Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596791.1",
"strand": true,
"transcript": "ENST00000926732.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "T",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5367,
"cdna_start": 953,
"cds_end": null,
"cds_length": 3864,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926734.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Thr275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596793.1",
"strand": true,
"transcript": "ENST00000926734.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5411,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 3798,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001438094.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425023.1",
"strand": true,
"transcript": "NM_001438094.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1373,
"aa_ref": "T",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5592,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 4122,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_024447335.2",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.1082C>T",
"hgvs_p": "p.Thr361Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303103.1",
"strand": true,
"transcript": "XM_024447335.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "T",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5552,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 4110,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017014003.2",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Thr357Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869492.1",
"strand": true,
"transcript": "XM_017014003.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1345,
"aa_ref": "T",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5612,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 4038,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047422450.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278406.1",
"strand": true,
"transcript": "XM_047422450.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "T",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 4035,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047422452.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Thr332Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278408.1",
"strand": true,
"transcript": "XM_047422452.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5375,
"cdna_start": 957,
"cds_end": null,
"cds_length": 3921,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047422449.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278405.1",
"strand": true,
"transcript": "XM_047422449.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5495,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 3921,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047422454.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278410.1",
"strand": true,
"transcript": "XM_047422454.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "T",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5480,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 3918,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047422456.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Thr293Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278412.1",
"strand": true,
"transcript": "XM_047422456.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1304,
"aa_ref": "T",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5340,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 3915,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011534768.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533070.1",
"strand": true,
"transcript": "XM_011534768.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1304,
"aa_ref": "T",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5340,
"cdna_start": 925,
"cds_end": null,
"cds_length": 3915,
"cds_start": 878,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047422451.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Thr293Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278407.1",
"strand": true,
"transcript": "XM_047422451.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "T",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5447,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 3873,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047422458.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Thr278Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278414.1",
"strand": true,
"transcript": "XM_047422458.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1277,
"aa_ref": "T",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5587,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 3834,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047422453.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278409.1",
"strand": true,
"transcript": "XM_047422453.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "T",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6505,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 3489,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011534770.3",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533072.1",
"strand": true,
"transcript": "XM_011534770.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1161,
"aa_ref": "T",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6639,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 3486,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047422461.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Thr332Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278417.1",
"strand": true,
"transcript": "XM_047422461.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "T",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6388,
"cdna_start": 928,
"cds_end": null,
"cds_length": 3372,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047422460.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278416.1",
"strand": true,
"transcript": "XM_047422460.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1082,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 209,
"cds_end": null,
"cds_length": 3249,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047422462.1",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278418.1",
"strand": true,
"transcript": "XM_047422462.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000520972.5",
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"hgvs_c": "n.691C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000520972.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000635773.1",
"gene_hgnc_id": null,
"gene_symbol": "KBTBD11-OT1",
"hgvs_c": "n.*1015C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490620.1",
"strand": true,
"transcript": "ENST00000635773.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000635773.1",
"gene_hgnc_id": null,
"gene_symbol": "KBTBD11-OT1",
"hgvs_c": "n.*1015C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490620.1",
"strand": true,
"transcript": "ENST00000635773.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs28940281",
"effect": "missense_variant",
"frequency_reference_population": 7.1228925e-7,
"gene_hgnc_id": 14103,
"gene_symbol": "ARHGEF10",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 7.12289e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "no classifications from unflagged records",
"phenotype_combined": "Autosomal dominant slowed nerve conduction velocity",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.172,
"pos": 1882669,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.446,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001438091.1"
}
]
}