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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: 11-108146356-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108146356&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108146356,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001386677.1",
"consequences": [
{
"aa_ref": "I",
"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.1160T>C",
"hgvs_p": "p.Ile387Thr",
"transcript": "NM_000019.4",
"protein_id": "NP_000010.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 427,
"cds_start": 1160,
"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": "I",
"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.1160T>C",
"hgvs_p": "p.Ile387Thr",
"transcript": "ENST00000265838.9",
"protein_id": "ENSP00000265838.4",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 427,
"cds_start": 1160,
"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": "I",
"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.1160T>C",
"hgvs_p": "p.Ile387Thr",
"transcript": "ENST00000907956.1",
"protein_id": "ENSP00000578015.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 435,
"cds_start": 1160,
"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": "I",
"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.1160T>C",
"hgvs_p": "p.Ile387Thr",
"transcript": "NM_001386677.1",
"protein_id": "NP_001373606.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 434,
"cds_start": 1160,
"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": "I",
"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.1160T>C",
"hgvs_p": "p.Ile387Thr",
"transcript": "ENST00000672354.1",
"protein_id": "ENSP00000500490.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 434,
"cds_start": 1160,
"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": "I",
"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.1166T>C",
"hgvs_p": "p.Ile389Thr",
"transcript": "ENST00000959310.1",
"protein_id": "ENSP00000629369.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 429,
"cds_start": 1166,
"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": "I",
"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.1154T>C",
"hgvs_p": "p.Ile385Thr",
"transcript": "ENST00000907949.1",
"protein_id": "ENSP00000578008.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 425,
"cds_start": 1154,
"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": "I",
"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.1151T>C",
"hgvs_p": "p.Ile384Thr",
"transcript": "ENST00000907950.1",
"protein_id": "ENSP00000578009.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 424,
"cds_start": 1151,
"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": "I",
"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.1160T>C",
"hgvs_p": "p.Ile387Thr",
"transcript": "ENST00000959311.1",
"protein_id": "ENSP00000629370.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 422,
"cds_start": 1160,
"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": "I",
"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.1121T>C",
"hgvs_p": "p.Ile374Thr",
"transcript": "ENST00000907951.1",
"protein_id": "ENSP00000578010.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 414,
"cds_start": 1121,
"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": "I",
"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.1118T>C",
"hgvs_p": "p.Ile373Thr",
"transcript": "ENST00000907954.1",
"protein_id": "ENSP00000578013.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 413,
"cds_start": 1118,
"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": "I",
"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.1109T>C",
"hgvs_p": "p.Ile370Thr",
"transcript": "ENST00000907943.1",
"protein_id": "ENSP00000578002.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 410,
"cds_start": 1109,
"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": "I",
"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.1100T>C",
"hgvs_p": "p.Ile367Thr",
"transcript": "ENST00000907944.1",
"protein_id": "ENSP00000578003.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 407,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907944.1"
},
{
"aa_ref": "I",
"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.1097T>C",
"hgvs_p": "p.Ile366Thr",
"transcript": "ENST00000907953.1",
"protein_id": "ENSP00000578012.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 406,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907953.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1091T>C",
"hgvs_p": "p.Ile364Thr",
"transcript": "ENST00000938152.1",
"protein_id": "ENSP00000608211.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 404,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938152.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1064T>C",
"hgvs_p": "p.Ile355Thr",
"transcript": "ENST00000907942.1",
"protein_id": "ENSP00000578001.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 395,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907942.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1064T>C",
"hgvs_p": "p.Ile355Thr",
"transcript": "ENST00000907946.1",
"protein_id": "ENSP00000578005.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 395,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907946.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1016T>C",
"hgvs_p": "p.Ile339Thr",
"transcript": "ENST00000907952.1",
"protein_id": "ENSP00000578011.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 379,
"cds_start": 1016,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907952.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.959T>C",
"hgvs_p": "p.Ile320Thr",
"transcript": "ENST00000907945.1",
"protein_id": "ENSP00000578004.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 360,
"cds_start": 959,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907945.1"
},
{
"aa_ref": "I",
"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.890T>C",
"hgvs_p": "p.Ile297Thr",
"transcript": "NM_001386681.1",
"protein_id": "NP_001373610.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 337,
"cds_start": 890,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386681.1"
},
{
"aa_ref": "I",
"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.890T>C",
"hgvs_p": "p.Ile297Thr",
"transcript": "NM_001386682.1",
"protein_id": "NP_001373611.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 337,
"cds_start": 890,
"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_001386682.1"
},
{
"aa_ref": "I",
"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.890T>C",
"hgvs_p": "p.Ile297Thr",
"transcript": "NM_001386685.1",
"protein_id": "NP_001373614.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 337,
"cds_start": 890,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_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.*147T>C",
"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": 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": "ENST00000672031.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_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.*415T>C",
"hgvs_p": null,
"transcript": "ENST00000672580.1",
"protein_id": "ENSP00000500366.1",
"transcript_support_level": null,
"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": "ENST00000672580.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285696",
"gene_hgnc_id": null,
"hgvs_c": "n.534+3492A>G",
"hgvs_p": null,
"transcript": "ENST00000649165.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000649165.1"
}
],
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"dbsnp": "rs748303093",
"frequency_reference_population": 0.0000037180018,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342096,
"gnomad_genomes_af": 0.00000657065,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9901373386383057,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.95,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6854,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.781,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001386677.1",
"gene_symbol": "ACAT1",
"hgnc_id": 93,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1160T>C",
"hgvs_p": "p.Ile387Thr"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000649165.1",
"gene_symbol": "ENSG00000285696",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.534+3492A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Deficiency of acetyl-CoA acetyltransferase,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:3",
"phenotype_combined": "Deficiency of acetyl-CoA acetyltransferase|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}