← 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: 3-51984122-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=51984122&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 51984122,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001316331.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "NM_000666.3",
"protein_id": "NP_000657.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 408,
"cds_start": 58,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000636358.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000666.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000636358.2",
"protein_id": "ENSP00000490149.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 408,
"cds_start": 58,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000666.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636358.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000404366.7",
"protein_id": "ENSP00000384296.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 408,
"cds_start": 58,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404366.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.398-1085C>A",
"hgvs_p": null,
"transcript": "ENST00000463937.1",
"protein_id": "ENSP00000420487.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": null,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463937.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.625C>A",
"hgvs_p": "p.Leu209Met",
"transcript": "ENST00000637978.1",
"protein_id": "ENSP00000490744.1",
"transcript_support_level": 5,
"aa_start": 209,
"aa_end": null,
"aa_length": 584,
"cds_start": 625,
"cds_end": null,
"cds_length": 1756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637978.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.328C>A",
"hgvs_p": "p.Leu110Met",
"transcript": "NM_001316331.2",
"protein_id": "NP_001303260.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 498,
"cds_start": 328,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316331.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "NM_001198895.2",
"protein_id": "NP_001185824.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 408,
"cds_start": 58,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198895.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874798.1",
"protein_id": "ENSP00000544857.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 408,
"cds_start": 58,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874798.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874801.1",
"protein_id": "ENSP00000544860.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 408,
"cds_start": 58,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874801.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874809.1",
"protein_id": "ENSP00000544868.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 408,
"cds_start": 58,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874809.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874811.1",
"protein_id": "ENSP00000544870.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 408,
"cds_start": 58,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874811.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874812.1",
"protein_id": "ENSP00000544871.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 408,
"cds_start": 58,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874812.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000953767.1",
"protein_id": "ENSP00000623826.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 408,
"cds_start": 58,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953767.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874802.1",
"protein_id": "ENSP00000544861.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 407,
"cds_start": 58,
"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": "ENST00000874802.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874807.1",
"protein_id": "ENSP00000544866.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 407,
"cds_start": 58,
"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": "ENST00000874807.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874813.1",
"protein_id": "ENSP00000544872.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 407,
"cds_start": 58,
"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": "ENST00000874813.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874815.1",
"protein_id": "ENSP00000544874.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 407,
"cds_start": 58,
"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": "ENST00000874815.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874805.1",
"protein_id": "ENSP00000544864.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 406,
"cds_start": 58,
"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": "ENST00000874805.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000953768.1",
"protein_id": "ENSP00000623827.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 403,
"cds_start": 58,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953768.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874808.1",
"protein_id": "ENSP00000544867.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 402,
"cds_start": 58,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874808.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874814.1",
"protein_id": "ENSP00000544873.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 398,
"cds_start": 58,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874814.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874810.1",
"protein_id": "ENSP00000544869.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 397,
"cds_start": 58,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874810.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874803.1",
"protein_id": "ENSP00000544862.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 389,
"cds_start": 58,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874803.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874806.1",
"protein_id": "ENSP00000544865.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 389,
"cds_start": 58,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874806.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874800.1",
"protein_id": "ENSP00000544859.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 378,
"cds_start": 58,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874800.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000953766.1",
"protein_id": "ENSP00000623825.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 378,
"cds_start": 58,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953766.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "NM_001198898.2",
"protein_id": "NP_001185827.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 373,
"cds_start": 58,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198898.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000476351.5",
"protein_id": "ENSP00000417056.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 373,
"cds_start": 58,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476351.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000635797.1",
"protein_id": "ENSP00000490007.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 373,
"cds_start": 58,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635797.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874804.1",
"protein_id": "ENSP00000544863.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 373,
"cds_start": 58,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874804.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874799.1",
"protein_id": "ENSP00000544858.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 372,
"cds_start": 58,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874799.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "NM_001198897.2",
"protein_id": "NP_001185826.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 343,
"cds_start": 58,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198897.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000476854.5",
"protein_id": "ENSP00000419262.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 343,
"cds_start": 58,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476854.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000940876.1",
"protein_id": "ENSP00000610935.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 342,
"cds_start": 58,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940876.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "NM_001198896.2",
"protein_id": "NP_001185825.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 336,
"cds_start": 58,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198896.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000494103.5",
"protein_id": "ENSP00000417618.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 336,
"cds_start": 58,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494103.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000874816.1",
"protein_id": "ENSP00000544875.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 320,
"cds_start": 58,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874816.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000637222.1",
"protein_id": "ENSP00000490353.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 274,
"cds_start": 58,
"cds_end": null,
"cds_length": 827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637222.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Leu49Met",
"transcript": "ENST00000635952.1",
"protein_id": "ENSP00000490434.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 263,
"cds_start": 145,
"cds_end": null,
"cds_length": 794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635952.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000469863.1",
"protein_id": "ENSP00000419830.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 227,
"cds_start": 58,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469863.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"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": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met",
"transcript": "ENST00000940877.1",
"protein_id": "ENSP00000610936.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 212,
"cds_start": 58,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940877.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000463721.5",
"protein_id": "ENSP00000417688.1",
"transcript_support_level": 2,
"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": "ENST00000463721.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.131C>A",
"hgvs_p": null,
"transcript": "ENST00000465121.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000465121.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000486081.6",
"protein_id": "ENSP00000420395.1",
"transcript_support_level": 5,
"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": "ENST00000486081.6"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.58C>A",
"hgvs_p": null,
"transcript": "ENST00000491318.5",
"protein_id": "ENSP00000418683.1",
"transcript_support_level": 3,
"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": "ENST00000491318.5"
},
{
"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": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.326C>A",
"hgvs_p": null,
"transcript": "ENST00000496679.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000496679.2"
},
{
"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": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.221C>A",
"hgvs_p": null,
"transcript": "ENST00000497128.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000497128.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.287C>A",
"hgvs_p": null,
"transcript": "ENST00000635785.1",
"protein_id": "ENSP00000490574.1",
"transcript_support_level": 5,
"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": "ENST00000635785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000635937.1",
"protein_id": "ENSP00000489887.1",
"transcript_support_level": 5,
"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": "ENST00000635937.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000635946.1",
"protein_id": "ENSP00000490284.1",
"transcript_support_level": 5,
"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": "ENST00000635946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000635951.1",
"protein_id": "ENSP00000490649.1",
"transcript_support_level": 5,
"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": "ENST00000635951.1"
},
{
"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": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.165C>A",
"hgvs_p": null,
"transcript": "ENST00000636029.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000636029.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.35C>A",
"hgvs_p": null,
"transcript": "ENST00000636047.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000636047.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.386C>A",
"hgvs_p": null,
"transcript": "ENST00000636085.1",
"protein_id": "ENSP00000489981.1",
"transcript_support_level": 5,
"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": "ENST00000636085.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000636089.1",
"protein_id": "ENSP00000490657.1",
"transcript_support_level": 5,
"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": "ENST00000636089.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.*54C>A",
"hgvs_p": null,
"transcript": "ENST00000636264.1",
"protein_id": "ENSP00000490680.1",
"transcript_support_level": 5,
"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": "ENST00000636264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000636490.1",
"protein_id": "ENSP00000490575.1",
"transcript_support_level": 5,
"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": "ENST00000636490.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.58C>A",
"hgvs_p": null,
"transcript": "ENST00000636556.1",
"protein_id": "ENSP00000490500.1",
"transcript_support_level": 5,
"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": "ENST00000636556.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000636646.1",
"protein_id": "ENSP00000490688.1",
"transcript_support_level": 5,
"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": "ENST00000636646.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000636826.1",
"protein_id": "ENSP00000489721.1",
"transcript_support_level": 5,
"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": "ENST00000636826.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.58C>A",
"hgvs_p": null,
"transcript": "ENST00000636880.1",
"protein_id": "ENSP00000489947.1",
"transcript_support_level": 3,
"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": "ENST00000636880.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000636942.1",
"protein_id": "ENSP00000490848.1",
"transcript_support_level": 5,
"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": "ENST00000636942.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.145C>A",
"hgvs_p": null,
"transcript": "ENST00000637025.1",
"protein_id": "ENSP00000490236.1",
"transcript_support_level": 5,
"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": "ENST00000637025.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.58C>A",
"hgvs_p": null,
"transcript": "ENST00000637209.1",
"protein_id": "ENSP00000490708.1",
"transcript_support_level": 5,
"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": "ENST00000637209.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.58C>A",
"hgvs_p": null,
"transcript": "ENST00000637349.1",
"protein_id": "ENSP00000489688.1",
"transcript_support_level": 5,
"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": "ENST00000637349.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.139C>A",
"hgvs_p": null,
"transcript": "ENST00000637460.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000637460.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.287C>A",
"hgvs_p": null,
"transcript": "ENST00000637512.1",
"protein_id": "ENSP00000490460.1",
"transcript_support_level": 5,
"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": "ENST00000637512.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000637563.1",
"protein_id": "ENSP00000490319.1",
"transcript_support_level": 5,
"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": "ENST00000637563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000637696.1",
"protein_id": "ENSP00000490554.1",
"transcript_support_level": 5,
"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": "ENST00000637696.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.329C>A",
"hgvs_p": null,
"transcript": "ENST00000637730.1",
"protein_id": "ENSP00000490750.1",
"transcript_support_level": 5,
"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": "ENST00000637730.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.473C>A",
"hgvs_p": null,
"transcript": "ENST00000637778.1",
"protein_id": "ENSP00000490052.1",
"transcript_support_level": 5,
"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": "ENST00000637778.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.*54C>A",
"hgvs_p": null,
"transcript": "ENST00000636264.1",
"protein_id": "ENSP00000490680.1",
"transcript_support_level": 5,
"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": "ENST00000636264.1"
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.131-1239C>A",
"hgvs_p": null,
"transcript": "ENST00000636660.1",
"protein_id": "ENSP00000490616.1",
"transcript_support_level": 5,
"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": "ENST00000636660.1"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.398-1239C>A",
"hgvs_p": null,
"transcript": "ENST00000636718.1",
"protein_id": "ENSP00000490429.1",
"transcript_support_level": 5,
"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": "ENST00000636718.1"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.398-1239C>A",
"hgvs_p": null,
"transcript": "ENST00000637130.1",
"protein_id": "ENSP00000490887.1",
"transcript_support_level": 5,
"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": "ENST00000637130.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"hgvs_c": "n.5-1239C>A",
"hgvs_p": null,
"transcript": "ENST00000637461.1",
"protein_id": "ENSP00000490593.1",
"transcript_support_level": 5,
"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": "ENST00000637461.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACY1",
"gene_hgnc_id": 177,
"hgvs_c": "n.-15C>A",
"hgvs_p": null,
"transcript": "ENST00000635941.1",
"protein_id": "ENSP00000490309.1",
"transcript_support_level": 5,
"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": "ENST00000635941.1"
}
],
"gene_symbol": "ABHD14A-ACY1",
"gene_hgnc_id": 38856,
"dbsnp": "rs200895743",
"frequency_reference_population": 0.000013136634,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131366,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7741951942443848,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.67,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5983,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.649,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001316331.2",
"gene_symbol": "ABHD14A-ACY1",
"hgnc_id": 38856,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.328C>A",
"hgvs_p": "p.Leu110Met"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000666.3",
"gene_symbol": "ACY1",
"hgnc_id": 177,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.58C>A",
"hgvs_p": "p.Leu20Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}