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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: 11-108135240-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108135240&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108135240,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001386677.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "NM_000019.4",
"protein_id": "NP_000010.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 427,
"cds_start": 433,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265838.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000019.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "ENST00000265838.9",
"protein_id": "ENSP00000265838.4",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 427,
"cds_start": 433,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000019.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265838.9"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "ENST00000299355.10",
"protein_id": "ENSP00000299355.6",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 162,
"cds_start": 433,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299355.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "n.334+924C>G",
"hgvs_p": null,
"transcript": "ENST00000531813.5",
"protein_id": "ENSP00000435965.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000531813.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "ENST00000907956.1",
"protein_id": "ENSP00000578015.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 435,
"cds_start": 433,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907956.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "NM_001386677.1",
"protein_id": "NP_001373606.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 434,
"cds_start": 433,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386677.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "ENST00000672354.1",
"protein_id": "ENSP00000500490.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 434,
"cds_start": 433,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672354.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "ENST00000959310.1",
"protein_id": "ENSP00000629369.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 429,
"cds_start": 433,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959310.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "ENST00000907949.1",
"protein_id": "ENSP00000578008.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 425,
"cds_start": 433,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907949.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "ENST00000907950.1",
"protein_id": "ENSP00000578009.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 424,
"cds_start": 433,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907950.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "ENST00000959311.1",
"protein_id": "ENSP00000629370.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 422,
"cds_start": 433,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959311.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.394C>G",
"hgvs_p": "p.Gln132Glu",
"transcript": "ENST00000907951.1",
"protein_id": "ENSP00000578010.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 414,
"cds_start": 394,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907951.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Gln131Glu",
"transcript": "ENST00000907954.1",
"protein_id": "ENSP00000578013.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 413,
"cds_start": 391,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907954.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.382C>G",
"hgvs_p": "p.Gln128Glu",
"transcript": "ENST00000907943.1",
"protein_id": "ENSP00000578002.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 410,
"cds_start": 382,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907943.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Gln125Glu",
"transcript": "ENST00000907944.1",
"protein_id": "ENSP00000578003.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 407,
"cds_start": 373,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907944.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "ENST00000907953.1",
"protein_id": "ENSP00000578012.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 406,
"cds_start": 433,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907953.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "ENST00000938152.1",
"protein_id": "ENSP00000608211.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 404,
"cds_start": 433,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938152.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.337C>G",
"hgvs_p": "p.Gln113Glu",
"transcript": "ENST00000907942.1",
"protein_id": "ENSP00000578001.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 395,
"cds_start": 337,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907942.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "ENST00000907946.1",
"protein_id": "ENSP00000578005.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 395,
"cds_start": 433,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907946.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu",
"transcript": "ENST00000907952.1",
"protein_id": "ENSP00000578011.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 379,
"cds_start": 433,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907952.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.163C>G",
"hgvs_p": "p.Gln55Glu",
"transcript": "NM_001386681.1",
"protein_id": "NP_001373610.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 337,
"cds_start": 163,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386681.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 12,
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"biotype": "pseudogene",
"feature": "ENST00000673000.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"gene_symbol": "ACAT1",
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"transcript": "NR_170162.1",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170162.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 7,
"intron_rank": 4,
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"gene_symbol": "ACAT1",
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"transcript": "ENST00000672008.1",
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"biotype": "nonsense_mediated_decay",
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 12,
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"gene_symbol": "ACAT1",
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"hgvs_c": "n.468+924C>G",
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"transcript": "NR_170163.1",
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170163.1"
}
],
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"dbsnp": "rs120074148",
"frequency_reference_population": 0.0000024913456,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000206422,
"gnomad_genomes_af": 0.00000656918,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6874371767044067,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6380000114440918,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.793,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1497,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.638,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.917684666791742,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001386677.1",
"gene_symbol": "ACAT1",
"hgnc_id": 93,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.433C>G",
"hgvs_p": "p.Gln145Glu"
}
],
"clinvar_disease": "Deficiency of acetyl-CoA acetyltransferase,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:2",
"phenotype_combined": "Deficiency of acetyl-CoA acetyltransferase|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}