← 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: 1-11958627-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11958627&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11958627,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001316320.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Arg",
"transcript": "NM_000302.4",
"protein_id": "NP_000293.2",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 727,
"cds_start": 955,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000196061.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000302.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Arg",
"transcript": "ENST00000196061.5",
"protein_id": "ENSP00000196061.4",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 727,
"cds_start": 955,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000302.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000196061.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1099C>A",
"hgvs_p": "p.Arg367Arg",
"transcript": "ENST00000854019.1",
"protein_id": "ENSP00000524078.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 775,
"cds_start": 1099,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854019.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1096C>A",
"hgvs_p": "p.Arg366Arg",
"transcript": "NM_001316320.2",
"protein_id": "NP_001303249.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 774,
"cds_start": 1096,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316320.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1042C>A",
"hgvs_p": "p.Arg348Arg",
"transcript": "ENST00000854031.1",
"protein_id": "ENSP00000524090.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 756,
"cds_start": 1042,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854031.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1042C>A",
"hgvs_p": "p.Arg348Arg",
"transcript": "ENST00000854033.1",
"protein_id": "ENSP00000524092.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 756,
"cds_start": 1042,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854033.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Arg",
"transcript": "ENST00000960558.1",
"protein_id": "ENSP00000630617.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 740,
"cds_start": 955,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960558.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.982C>A",
"hgvs_p": "p.Arg328Arg",
"transcript": "ENST00000854021.1",
"protein_id": "ENSP00000524080.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 736,
"cds_start": 982,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854021.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Arg",
"transcript": "ENST00000934212.1",
"protein_id": "ENSP00000604271.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 734,
"cds_start": 955,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934212.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.952C>A",
"hgvs_p": "p.Arg318Arg",
"transcript": "ENST00000854027.1",
"protein_id": "ENSP00000524086.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 726,
"cds_start": 952,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854027.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Arg",
"transcript": "ENST00000854022.1",
"protein_id": "ENSP00000524081.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 725,
"cds_start": 949,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854022.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Arg",
"transcript": "ENST00000854026.1",
"protein_id": "ENSP00000524085.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 725,
"cds_start": 955,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854026.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Arg",
"transcript": "ENST00000854028.1",
"protein_id": "ENSP00000524087.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 725,
"cds_start": 949,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854028.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.922C>A",
"hgvs_p": "p.Arg308Arg",
"transcript": "ENST00000854032.1",
"protein_id": "ENSP00000524091.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 716,
"cds_start": 922,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854032.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Arg",
"transcript": "ENST00000934214.1",
"protein_id": "ENSP00000604273.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 714,
"cds_start": 955,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934214.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Arg304Arg",
"transcript": "ENST00000854029.1",
"protein_id": "ENSP00000524088.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 712,
"cds_start": 910,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854029.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.880C>A",
"hgvs_p": "p.Arg294Arg",
"transcript": "ENST00000854023.1",
"protein_id": "ENSP00000524082.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 702,
"cds_start": 880,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854023.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.853C>A",
"hgvs_p": "p.Arg285Arg",
"transcript": "ENST00000854030.1",
"protein_id": "ENSP00000524089.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 693,
"cds_start": 853,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854030.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Arg",
"transcript": "ENST00000934210.1",
"protein_id": "ENSP00000604269.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 692,
"cds_start": 955,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934210.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Arg",
"transcript": "ENST00000934211.1",
"protein_id": "ENSP00000604270.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 689,
"cds_start": 955,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934211.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Arg",
"transcript": "ENST00000854024.1",
"protein_id": "ENSP00000524083.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 685,
"cds_start": 955,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854024.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Arg",
"transcript": "ENST00000960559.1",
"protein_id": "ENSP00000630618.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 685,
"cds_start": 955,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960559.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Arg",
"transcript": "ENST00000854020.1",
"protein_id": "ENSP00000524079.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 678,
"cds_start": 955,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854020.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Arg319Arg",
"transcript": "ENST00000854025.1",
"protein_id": "ENSP00000524084.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 643,
"cds_start": 955,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854025.1"
},
{
"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": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.741+1613C>A",
"hgvs_p": null,
"transcript": "ENST00000934213.1",
"protein_id": "ENSP00000604272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": null,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "n.*34C>A",
"hgvs_p": null,
"transcript": "ENST00000465920.1",
"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": "ENST00000465920.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "n.*7C>A",
"hgvs_p": null,
"transcript": "ENST00000485046.5",
"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": "ENST00000485046.5"
}
],
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"dbsnp": "rs121913550",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"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": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.636,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 11,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001316320.2",
"gene_symbol": "PLOD1",
"hgnc_id": 9081,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1096C>A",
"hgvs_p": "p.Arg366Arg"
}
],
"clinvar_disease": " kyphoscoliotic type 1,Ehlers-Danlos syndrome,Familial thoracic aortic aneurysm and aortic dissection",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Ehlers-Danlos syndrome, kyphoscoliotic type 1|Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}