← 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: 16-724116-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=724116&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCDC78",
"hgnc_id": 14153,
"hgvs_c": "c.1043G>C",
"hgvs_p": "p.Arg348Pro",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001378030.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1185,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03378364443778992,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001378030.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1043G>C",
"hgvs_p": "p.Arg348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345165.10",
"protein_coding": true,
"protein_id": "NP_001364959.1",
"strand": false,
"transcript": "NM_001378030.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000345165.10",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1043G>C",
"hgvs_p": "p.Arg348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378030.1",
"protein_coding": true,
"protein_id": "ENSP00000316851.5",
"strand": false,
"transcript": "ENST00000345165.10",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000293889.10",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1043G>C",
"hgvs_p": "p.Arg348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000293889.6",
"strand": false,
"transcript": "ENST00000293889.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 482,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000947033.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1043G>C",
"hgvs_p": "p.Arg348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617092.1",
"strand": false,
"transcript": "ENST00000947033.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1619,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000947032.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1073G>C",
"hgvs_p": "p.Arg358Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617091.1",
"strand": false,
"transcript": "ENST00000947032.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 462,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1389,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000853033.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1043G>C",
"hgvs_p": "p.Arg348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523092.1",
"strand": false,
"transcript": "ENST00000853033.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 459,
"aa_ref": "R",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1010,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000853031.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1010G>C",
"hgvs_p": "p.Arg337Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523090.1",
"strand": false,
"transcript": "ENST00000853031.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000853036.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1043G>C",
"hgvs_p": "p.Arg348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523095.1",
"strand": false,
"transcript": "ENST00000853036.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001031737.3",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1043G>C",
"hgvs_p": "p.Arg348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001026907.2",
"strand": false,
"transcript": "NM_001031737.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 428,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1464,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 1287,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000853035.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.917G>C",
"hgvs_p": "p.Arg306Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523094.1",
"strand": false,
"transcript": "ENST00000853035.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1245,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000853032.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.875G>C",
"hgvs_p": "p.Arg292Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523091.1",
"strand": false,
"transcript": "ENST00000853032.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 281,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1259,
"cdna_start": 793,
"cds_end": null,
"cds_length": 846,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001378033.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.476G>C",
"hgvs_p": "p.Arg159Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364962.1",
"strand": false,
"transcript": "NM_001378033.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 643,
"aa_ref": "R",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011522356.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520658.1",
"strand": false,
"transcript": "XM_011522356.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 639,
"aa_ref": "R",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1478,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011522357.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1478G>C",
"hgvs_p": "p.Arg493Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520659.1",
"strand": false,
"transcript": "XM_011522357.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 635,
"aa_ref": "R",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011522358.3",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520660.1",
"strand": false,
"transcript": "XM_011522358.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 1533,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1457,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011522359.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1457G>C",
"hgvs_p": "p.Arg486Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520661.1",
"strand": false,
"transcript": "XM_011522359.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 628,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011522360.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1445G>C",
"hgvs_p": "p.Arg482Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520662.1",
"strand": false,
"transcript": "XM_011522360.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011522361.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520663.1",
"strand": false,
"transcript": "XM_011522361.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 611,
"aa_ref": "R",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2008,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017022929.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878418.1",
"strand": false,
"transcript": "XM_017022929.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011522362.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520664.1",
"strand": false,
"transcript": "XM_011522362.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 587,
"aa_ref": "R",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2028,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011522363.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520665.1",
"strand": false,
"transcript": "XM_011522363.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 579,
"aa_ref": "R",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011522364.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520666.1",
"strand": false,
"transcript": "XM_011522364.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 572,
"aa_ref": "R",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011522365.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1277G>C",
"hgvs_p": "p.Arg426Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520667.1",
"strand": false,
"transcript": "XM_011522365.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1268,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011522366.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1268G>C",
"hgvs_p": "p.Arg423Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520668.1",
"strand": false,
"transcript": "XM_011522366.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 568,
"aa_ref": "R",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_006720838.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720901.1",
"strand": false,
"transcript": "XM_006720838.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "R",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047433602.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289558.1",
"strand": false,
"transcript": "XM_047433602.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1109,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011522367.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1109G>C",
"hgvs_p": "p.Arg370Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520669.1",
"strand": false,
"transcript": "XM_011522367.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 512,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011522368.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1097G>C",
"hgvs_p": "p.Arg366Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520670.1",
"strand": false,
"transcript": "XM_011522368.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 498,
"aa_ref": "R",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011522369.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1055G>C",
"hgvs_p": "p.Arg352Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520671.1",
"strand": false,
"transcript": "XM_011522369.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 494,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_006720843.5",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1043G>C",
"hgvs_p": "p.Arg348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720906.1",
"strand": false,
"transcript": "XM_006720843.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1413,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047433603.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Arg324Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289559.1",
"strand": false,
"transcript": "XM_047433603.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1413,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047433604.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Arg324Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289560.1",
"strand": false,
"transcript": "XM_047433604.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 442,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1329,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011522370.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.887G>C",
"hgvs_p": "p.Arg296Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520672.1",
"strand": false,
"transcript": "XM_011522370.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1044,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047433605.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Arg201Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289561.1",
"strand": false,
"transcript": "XM_047433605.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1613,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1032,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047433606.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Arg197Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289562.1",
"strand": false,
"transcript": "XM_047433606.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378031.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.953+206G>C",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364960.1",
"strand": false,
"transcript": "NM_001378031.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853034.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.953+206G>C",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523093.1",
"strand": false,
"transcript": "ENST00000853034.1",
"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": 1831,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000463539.5",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.1365G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000463539.5",
"transcript_support_level": 2
},
{
"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": 1847,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000466708.5",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.1387G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000466708.5",
"transcript_support_level": 2
},
{
"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": 3054,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000478979.5",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.1521G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000478979.5",
"transcript_support_level": 2
},
{
"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": 3248,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000481804.5",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.2021G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000481804.5",
"transcript_support_level": 2
},
{
"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": 899,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000482152.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.404G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000482152.1",
"transcript_support_level": 5
},
{
"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": 3458,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000482878.5",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.1924G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000482878.5",
"transcript_support_level": 2
},
{
"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": 1734,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000485091.5",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.1196G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000485091.5",
"transcript_support_level": 2
},
{
"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": 2071,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000682391.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.1586G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000682391.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_165382.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.1600G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_165382.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1712,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NR_165383.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.1246G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_165383.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NR_165384.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.1211G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_165384.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_165385.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.1311G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_165385.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_165386.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "n.1378G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_165386.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs142170929",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -4.43,
"pos": 724116,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.058,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001378030.1"
}
]
}