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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: 11-108146334-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108146334&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108146334,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000265838.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "NM_000019.4",
"protein_id": "NP_000010.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 427,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": "ENST00000265838.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "ENST00000265838.9",
"protein_id": "ENSP00000265838.4",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 427,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": "NM_000019.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "NM_001386677.1",
"protein_id": "NP_001373606.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 434,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr",
"transcript": "ENST00000672354.1",
"protein_id": "ENSP00000500490.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 434,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "NM_001386681.1",
"protein_id": "NP_001373610.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 337,
"cds_start": 868,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "NM_001386682.1",
"protein_id": "NP_001373611.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 337,
"cds_start": 868,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "NM_001386685.1",
"protein_id": "NP_001373614.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 337,
"cds_start": 868,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "NM_001386686.1",
"protein_id": "NP_001373615.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 337,
"cds_start": 868,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "NM_001386687.1",
"protein_id": "NP_001373616.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 337,
"cds_start": 868,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "NM_001386688.1",
"protein_id": "NP_001373617.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 337,
"cds_start": 868,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "NM_001386689.1",
"protein_id": "NP_001373618.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 337,
"cds_start": 868,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "NM_001386690.1",
"protein_id": "NP_001373619.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 337,
"cds_start": 868,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "NM_001386691.1",
"protein_id": "NP_001373620.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 337,
"cds_start": 868,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "ENST00000672284.1",
"protein_id": "ENSP00000500444.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 337,
"cds_start": 868,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "ENST00000673531.1",
"protein_id": "ENSP00000500163.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 337,
"cds_start": 868,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Ala281Thr",
"transcript": "NM_001386679.1",
"protein_id": "NP_001373608.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 328,
"cds_start": 841,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Ala275Thr",
"transcript": "NM_001386678.1",
"protein_id": "NP_001373607.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 322,
"cds_start": 823,
"cds_end": null,
"cds_length": 969,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Ala275Thr",
"transcript": "ENST00000672907.2",
"protein_id": "ENSP00000500928.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 322,
"cds_start": 823,
"cds_end": null,
"cds_length": 969,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Ala259Thr",
"transcript": "ENST00000672367.1",
"protein_id": "ENSP00000500209.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 306,
"cds_start": 775,
"cds_end": null,
"cds_length": 921,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1174,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "n.214G>A",
"hgvs_p": null,
"transcript": "ENST00000533597.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 558,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "n.1233G>A",
"hgvs_p": null,
"transcript": "ENST00000671707.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1444,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "n.*125G>A",
"hgvs_p": null,
"transcript": "ENST00000672031.1",
"protein_id": "ENSP00000500463.1",
"transcript_support_level": null,
"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": 1321,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "n.*393G>A",
"hgvs_p": null,
"transcript": "ENST00000672580.1",
"protein_id": "ENSP00000500366.1",
"transcript_support_level": null,
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{
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}
],
"gene_symbol": "ACAT1",
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"dbsnp": "rs120074140",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9922575354576111,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.954,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8024,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.701,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000265838.9",
"gene_symbol": "ACAT1",
"hgnc_id": 93,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Ala380Thr"
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{
"score": 8,
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"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000649165.1",
"gene_symbol": "ENSG00000285696",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.534+3514C>T",
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}
],
"clinvar_disease": "Deficiency of acetyl-CoA acetyltransferase",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Deficiency of acetyl-CoA acetyltransferase",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}