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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-19072015-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19072015&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19072015,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000321998.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54Gln",
"transcript": "NM_016138.5",
"protein_id": "NP_057222.2",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 217,
"cds_start": 161,
"cds_end": null,
"cds_length": 654,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": "ENST00000321998.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54Gln",
"transcript": "ENST00000321998.10",
"protein_id": "ENSP00000322316.5",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 217,
"cds_start": 161,
"cds_end": null,
"cds_length": 654,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": "NM_016138.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Arg16Gln",
"transcript": "ENST00000544894.6",
"protein_id": "ENSP00000442923.2",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 179,
"cds_start": 47,
"cds_end": null,
"cds_length": 540,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54Gln",
"transcript": "ENST00000568985.5",
"protein_id": "ENSP00000456734.1",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 217,
"cds_start": 161,
"cds_end": null,
"cds_length": 654,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.119G>A",
"hgvs_p": "p.Arg40Gln",
"transcript": "NM_001370489.1",
"protein_id": "NP_001357418.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 203,
"cds_start": 119,
"cds_end": null,
"cds_length": 612,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54Gln",
"transcript": "NM_001370490.1",
"protein_id": "NP_001357419.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 194,
"cds_start": 161,
"cds_end": null,
"cds_length": 585,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "ENST00000569127.1",
"protein_id": "ENSP00000455122.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 194,
"cds_start": 92,
"cds_end": null,
"cds_length": 585,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.119G>A",
"hgvs_p": "p.Arg40Gln",
"transcript": "NM_001370491.1",
"protein_id": "NP_001357420.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 180,
"cds_start": 119,
"cds_end": null,
"cds_length": 543,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Arg16Gln",
"transcript": "NM_001190983.2",
"protein_id": "NP_001177912.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 179,
"cds_start": 47,
"cds_end": null,
"cds_length": 540,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Arg16Gln",
"transcript": "NM_001370492.1",
"protein_id": "NP_001357421.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 179,
"cds_start": 47,
"cds_end": null,
"cds_length": 540,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Arg16Gln",
"transcript": "NM_001370493.1",
"protein_id": "NP_001357422.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 179,
"cds_start": 47,
"cds_end": null,
"cds_length": 540,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Arg16Gln",
"transcript": "NM_001370494.1",
"protein_id": "NP_001357423.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 179,
"cds_start": 47,
"cds_end": null,
"cds_length": 540,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Arg16Gln",
"transcript": "NM_001370495.1",
"protein_id": "NP_001357424.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 156,
"cds_start": 47,
"cds_end": null,
"cds_length": 471,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Arg16Gln",
"transcript": "ENST00000561858.5",
"protein_id": "ENSP00000457256.1",
"transcript_support_level": 3,
"aa_start": 16,
"aa_end": null,
"aa_length": 129,
"cds_start": 47,
"cds_end": null,
"cds_length": 391,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Arg16Gln",
"transcript": "ENST00000566110.5",
"protein_id": "ENSP00000456943.1",
"transcript_support_level": 4,
"aa_start": 16,
"aa_end": null,
"aa_length": 102,
"cds_start": 47,
"cds_end": null,
"cds_length": 310,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54Gln",
"transcript": "XM_047433494.1",
"protein_id": "XP_047289450.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 217,
"cds_start": 161,
"cds_end": null,
"cds_length": 654,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54Gln",
"transcript": "XM_047433495.1",
"protein_id": "XP_047289451.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 217,
"cds_start": 161,
"cds_end": null,
"cds_length": 654,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54Gln",
"transcript": "XM_047433496.1",
"protein_id": "XP_047289452.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 217,
"cds_start": 161,
"cds_end": null,
"cds_length": 654,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.119G>A",
"hgvs_p": "p.Arg40Gln",
"transcript": "XM_047433497.1",
"protein_id": "XP_047289453.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 203,
"cds_start": 119,
"cds_end": null,
"cds_length": 612,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 4764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.119G>A",
"hgvs_p": "p.Arg40Gln",
"transcript": "XM_047433498.1",
"protein_id": "XP_047289454.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 203,
"cds_start": 119,
"cds_end": null,
"cds_length": 612,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "n.180G>A",
"hgvs_p": null,
"transcript": "ENST00000564746.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "n.161G>A",
"hgvs_p": null,
"transcript": "ENST00000566049.5",
"protein_id": "ENSP00000456490.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "n.161G>A",
"hgvs_p": null,
"transcript": "ENST00000569312.5",
"protein_id": "ENSP00000459076.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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{
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}
],
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"dbsnp": "rs770654508",
"frequency_reference_population": 0.000036938432,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.0000369384,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 54,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9766258597373962,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.704,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7146,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.728,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000321998.10",
"gene_symbol": "COQ7",
"hgnc_id": 2244,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54Gln"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000774568.1",
"gene_symbol": "COQ7-DT",
"hgnc_id": 55362,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.357C>T",
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}
],
"clinvar_disease": " autosomal recessive 9, distal hereditary motor,Neuronopathy,Primary coenzyme Q10 deficiency 8,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:2 US:2",
"phenotype_combined": "Primary coenzyme Q10 deficiency 8|Neuronopathy, distal hereditary motor, autosomal recessive 9|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}