← 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: 20-35303946-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35303946&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UQCC1",
"hgnc_id": 15891,
"hgvs_c": "c.889G>C",
"hgvs_p": "p.Glu297Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_018244.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1678,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2128681242465973,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 299,
"aa_ref": "E",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 899,
"cds_end": null,
"cds_length": 900,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_018244.5",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.889G>C",
"hgvs_p": "p.Glu297Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374385.10",
"protein_coding": true,
"protein_id": "NP_060714.3",
"strand": false,
"transcript": "NM_018244.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 299,
"aa_ref": "E",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 899,
"cds_end": null,
"cds_length": 900,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000374385.10",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.889G>C",
"hgvs_p": "p.Glu297Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018244.5",
"protein_coding": true,
"protein_id": "ENSP00000363506.5",
"strand": false,
"transcript": "ENST00000374385.10",
"transcript_support_level": 1
},
{
"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": 1987,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000457259.5",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "n.*441G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411024.1",
"strand": false,
"transcript": "ENST00000457259.5",
"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": 1921,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000472559.5",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "n.541G>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": "ENST00000472559.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000457259.5",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "n.*441G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411024.1",
"strand": false,
"transcript": "ENST00000457259.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 306,
"aa_ref": "E",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 934,
"cds_end": null,
"cds_length": 921,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000959003.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.910G>C",
"hgvs_p": "p.Glu304Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629062.1",
"strand": false,
"transcript": "ENST00000959003.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 298,
"aa_ref": "E",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 910,
"cds_end": null,
"cds_length": 897,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896131.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.886G>C",
"hgvs_p": "p.Glu296Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566190.1",
"strand": false,
"transcript": "ENST00000896131.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 297,
"aa_ref": "E",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 905,
"cds_end": null,
"cds_length": 894,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896134.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.883G>C",
"hgvs_p": "p.Glu295Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566193.1",
"strand": false,
"transcript": "ENST00000896134.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 296,
"aa_ref": "E",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 987,
"cds_end": null,
"cds_length": 891,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000922688.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.880G>C",
"hgvs_p": "p.Glu294Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592747.1",
"strand": false,
"transcript": "ENST00000922688.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 295,
"aa_ref": "E",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 901,
"cds_end": null,
"cds_length": 888,
"cds_start": 877,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000922690.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.877G>C",
"hgvs_p": "p.Glu293Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592749.1",
"strand": false,
"transcript": "ENST00000922690.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 295,
"aa_ref": "E",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 957,
"cds_end": null,
"cds_length": 888,
"cds_start": 877,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000959001.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.877G>C",
"hgvs_p": "p.Glu293Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629060.1",
"strand": false,
"transcript": "ENST00000959001.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 292,
"aa_ref": "E",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 892,
"cds_end": null,
"cds_length": 879,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000922689.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.868G>C",
"hgvs_p": "p.Glu290Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592748.1",
"strand": false,
"transcript": "ENST00000922689.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 281,
"aa_ref": "E",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1339,
"cdna_start": 853,
"cds_end": null,
"cds_length": 846,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896137.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Glu279Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566196.1",
"strand": false,
"transcript": "ENST00000896137.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 277,
"aa_ref": "E",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 847,
"cds_end": null,
"cds_length": 834,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896132.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.823G>C",
"hgvs_p": "p.Glu275Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566191.1",
"strand": false,
"transcript": "ENST00000896132.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 273,
"aa_ref": "E",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 821,
"cds_end": null,
"cds_length": 822,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_199487.3",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.811G>C",
"hgvs_p": "p.Glu271Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_955781.2",
"strand": false,
"transcript": "NM_199487.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 273,
"aa_ref": "E",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 821,
"cds_end": null,
"cds_length": 822,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000374384.6",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.811G>C",
"hgvs_p": "p.Glu271Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363505.2",
"strand": false,
"transcript": "ENST00000374384.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 272,
"aa_ref": "E",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2188,
"cdna_start": 808,
"cds_end": null,
"cds_length": 819,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000349714.9",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.808G>C",
"hgvs_p": "p.Glu270Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000335364.6",
"strand": false,
"transcript": "ENST00000349714.9",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 266,
"aa_ref": "E",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 814,
"cds_end": null,
"cds_length": 801,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000959002.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.790G>C",
"hgvs_p": "p.Glu264Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629061.1",
"strand": false,
"transcript": "ENST00000959002.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 264,
"aa_ref": "E",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 794,
"cds_end": null,
"cds_length": 795,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000896135.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Glu262Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566194.1",
"strand": false,
"transcript": "ENST00000896135.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 263,
"aa_ref": "E",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 805,
"cds_end": null,
"cds_length": 792,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000896133.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Glu261Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566192.1",
"strand": false,
"transcript": "ENST00000896133.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 262,
"aa_ref": "E",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 788,
"cds_end": null,
"cds_length": 789,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000959004.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Glu260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629063.1",
"strand": false,
"transcript": "ENST00000959004.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 241,
"aa_ref": "E",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 725,
"cds_end": null,
"cds_length": 726,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000922692.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.715G>C",
"hgvs_p": "p.Glu239Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592751.1",
"strand": false,
"transcript": "ENST00000922692.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 231,
"aa_ref": "E",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 695,
"cds_end": null,
"cds_length": 696,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001184977.2",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.685G>C",
"hgvs_p": "p.Glu229Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171906.1",
"strand": false,
"transcript": "NM_001184977.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 231,
"aa_ref": "E",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 753,
"cds_end": null,
"cds_length": 696,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000374380.6",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.685G>C",
"hgvs_p": "p.Glu229Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363501.2",
"strand": false,
"transcript": "ENST00000374380.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 219,
"aa_ref": "E",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 656,
"cds_end": null,
"cds_length": 660,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000359226.6",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.649G>C",
"hgvs_p": "p.Glu217Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352161.2",
"strand": false,
"transcript": "ENST00000359226.6",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 196,
"aa_ref": "E",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 590,
"cds_end": null,
"cds_length": 591,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896136.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.580G>C",
"hgvs_p": "p.Glu194Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566195.1",
"strand": false,
"transcript": "ENST00000896136.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 162,
"aa_ref": "E",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 488,
"cds_end": null,
"cds_length": 489,
"cds_start": 478,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000959006.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.478G>C",
"hgvs_p": "p.Glu160Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629065.1",
"strand": false,
"transcript": "ENST00000959006.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 151,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1630,
"cdna_start": 476,
"cds_end": null,
"cds_length": 456,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922691.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.445G>C",
"hgvs_p": "p.Glu149Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592750.1",
"strand": false,
"transcript": "ENST00000922691.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 125,
"aa_ref": "E",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 375,
"cds_end": null,
"cds_length": 378,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000959005.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.367G>C",
"hgvs_p": "p.Glu123Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629064.1",
"strand": false,
"transcript": "ENST00000959005.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 313,
"aa_ref": "E",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2309,
"cdna_start": 941,
"cds_end": null,
"cds_length": 942,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011528877.2",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.931G>C",
"hgvs_p": "p.Glu311Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527179.1",
"strand": false,
"transcript": "XM_011528877.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 267,
"aa_ref": "E",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 803,
"cds_end": null,
"cds_length": 804,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011528878.3",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Glu265Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527180.1",
"strand": false,
"transcript": "XM_011528878.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 253,
"aa_ref": "E",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 924,
"cds_end": null,
"cds_length": 762,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011528879.2",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.751G>C",
"hgvs_p": "p.Glu251Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527181.1",
"strand": false,
"transcript": "XM_011528879.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 253,
"aa_ref": "E",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 762,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011528880.3",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.751G>C",
"hgvs_p": "p.Glu251Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527182.1",
"strand": false,
"transcript": "XM_011528880.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 200,
"aa_ref": "E",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 603,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011528881.4",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527183.1",
"strand": false,
"transcript": "XM_011528881.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 165,
"aa_ref": "E",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 536,
"cds_end": null,
"cds_length": 498,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047440254.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.487G>C",
"hgvs_p": "p.Glu163Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296210.1",
"strand": false,
"transcript": "XM_047440254.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 127,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1038,
"cdna_start": null,
"cds_end": null,
"cds_length": 384,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000453855.6",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.*141G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390334.2",
"strand": false,
"transcript": "ENST00000453855.6",
"transcript_support_level": 4
},
{
"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": 2329,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000374394.7",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "n.*870G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000363515.3",
"strand": false,
"transcript": "ENST00000374394.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 306,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000482440.1",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "n.154G>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": "ENST00000482440.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 801,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000496812.5",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "n.309G>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": "ENST00000496812.5",
"transcript_support_level": 3
},
{
"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": 2329,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000374394.7",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "n.*870G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000363515.3",
"strand": false,
"transcript": "ENST00000374394.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 758,
"cdna_start": null,
"cds_end": null,
"cds_length": 748,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424405.5",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "c.*45G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399713.1",
"strand": true,
"transcript": "ENST00000424405.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000473982.6",
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"hgvs_c": "n.*25G>C",
"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": "ENST00000473982.6",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1173654412",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 15891,
"gene_symbol": "UQCC1",
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.257,
"pos": 35303946,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.127,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_018244.5"
}
]
}