← 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: 19-11577093-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11577093&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11577093,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000648477.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "NM_001611.5",
"protein_id": "NP_001602.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": "ENST00000648477.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000648477.1",
"protein_id": "ENSP00000496973.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": "NM_001611.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000218758.10",
"protein_id": "ENSP00000218758.4",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "NM_001111034.3",
"protein_id": "NP_001104504.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "NM_001111035.3",
"protein_id": "NP_001104505.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "NM_001111036.3",
"protein_id": "NP_001104506.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "NM_001322023.2",
"protein_id": "NP_001308952.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "NM_001439233.1",
"protein_id": "NP_001426162.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "NM_001439234.1",
"protein_id": "NP_001426163.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "NM_001439235.1",
"protein_id": "NP_001426164.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "NM_001439236.1",
"protein_id": "NP_001426165.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000412435.7",
"protein_id": "ENSP00000392374.1",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000589792.6",
"protein_id": "ENSP00000468685.2",
"transcript_support_level": 3,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000590832.2",
"protein_id": "ENSP00000465127.2",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000591319.2",
"protein_id": "ENSP00000464831.2",
"transcript_support_level": 3,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000592659.2",
"protein_id": "ENSP00000465498.2",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000592828.7",
"protein_id": "ENSP00000468767.3",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000649386.2",
"protein_id": "ENSP00000497140.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000695791.1",
"protein_id": "ENSP00000512173.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000695811.1",
"protein_id": "ENSP00000512191.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 325,
"cds_start": 225,
"cds_end": null,
"cds_length": 978,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 1797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000695809.1",
"protein_id": "ENSP00000512189.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 324,
"cds_start": 225,
"cds_end": null,
"cds_length": 975,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000695813.1",
"protein_id": "ENSP00000512192.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 324,
"cds_start": 225,
"cds_end": null,
"cds_length": 975,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000695815.1",
"protein_id": "ENSP00000512194.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 324,
"cds_start": 225,
"cds_end": null,
"cds_length": 975,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000695817.1",
"protein_id": "ENSP00000512195.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 324,
"cds_start": 225,
"cds_end": null,
"cds_length": 975,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000695810.1",
"protein_id": "ENSP00000512190.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 299,
"cds_start": 225,
"cds_end": null,
"cds_length": 900,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000695820.1",
"protein_id": "ENSP00000512198.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 299,
"cds_start": 225,
"cds_end": null,
"cds_length": 900,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000695821.1",
"protein_id": "ENSP00000512199.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 299,
"cds_start": 225,
"cds_end": null,
"cds_length": 900,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "ENST00000695814.1",
"protein_id": "ENSP00000512193.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 292,
"cds_start": 225,
"cds_end": null,
"cds_length": 879,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "n.333C>T",
"hgvs_p": null,
"transcript": "ENST00000588079.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "n.518C>T",
"hgvs_p": null,
"transcript": "ENST00000588524.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "n.225C>T",
"hgvs_p": null,
"transcript": "ENST00000588625.2",
"protein_id": "ENSP00000512197.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "n.630C>T",
"hgvs_p": null,
"transcript": "ENST00000695812.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "n.440C>T",
"hgvs_p": null,
"transcript": "ENST00000695816.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "n.225C>T",
"hgvs_p": null,
"transcript": "ENST00000695818.1",
"protein_id": "ENSP00000512196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "n.517C>T",
"hgvs_p": null,
"transcript": "ENST00000695819.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "n.1861C>T",
"hgvs_p": null,
"transcript": "ENST00000695838.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF627",
"gene_hgnc_id": 30570,
"hgvs_c": "c.-94+1740G>A",
"hgvs_p": null,
"transcript": "ENST00000585493.5",
"protein_id": "ENSP00000464997.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 16,
"cds_start": -4,
"cds_end": null,
"cds_length": 51,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF627",
"gene_hgnc_id": 30570,
"hgvs_c": "n.519+1740G>A",
"hgvs_p": null,
"transcript": "ENST00000593279.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124904638",
"gene_hgnc_id": null,
"hgvs_c": "n.105+1740G>A",
"hgvs_p": null,
"transcript": "XR_007067140.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"dbsnp": "rs62638747",
"frequency_reference_population": 0.1138388,
"hom_count_reference_population": 11166,
"allele_count_reference_population": 183734,
"gnomad_exomes_af": 0.11589,
"gnomad_genomes_af": 0.0941364,
"gnomad_exomes_ac": 169407,
"gnomad_genomes_ac": 14327,
"gnomad_exomes_homalt": 10339,
"gnomad_genomes_homalt": 827,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.532,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000648477.1",
"gene_symbol": "ACP5",
"hgnc_id": 124,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe"
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000585493.5",
"gene_symbol": "ZNF627",
"hgnc_id": 30570,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-94+1740G>A",
"hgvs_p": null
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007067140.1",
"gene_symbol": "LOC124904638",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.105+1740G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Spondyloenchondrodysplasia with immune dysregulation,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Spondyloenchondrodysplasia with immune dysregulation|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}