← 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: 4-87482451-AC-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=87482451&ref=AC&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SPARCL1",
"hgnc_id": 11220,
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004684.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004684.6",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000282470.11",
"protein_coding": true,
"protein_id": "NP_004675.3",
"strand": false,
"transcript": "NM_004684.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000282470.11",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004684.6",
"protein_coding": true,
"protein_id": "ENSP00000282470.6",
"strand": false,
"transcript": "ENST00000282470.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 671,
"aa_ref": "G",
"aa_start": 554,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1661,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946054.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1661_1662delGTinsTC",
"hgvs_p": "p.Gly554Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616113.1",
"strand": false,
"transcript": "ENST00000946054.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 669,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2868,
"cdna_start": 2059,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880794.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550853.1",
"strand": false,
"transcript": "ENST00000880794.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 2086,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001128310.3",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121782.1",
"strand": false,
"transcript": "NM_001128310.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2994,
"cdna_start": 2213,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000418378.5",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414856.1",
"strand": false,
"transcript": "ENST00000418378.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880787.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550846.1",
"strand": false,
"transcript": "ENST00000880787.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 1908,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880788.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550847.1",
"strand": false,
"transcript": "ENST00000880788.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2753,
"cdna_start": 1959,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880789.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550848.1",
"strand": false,
"transcript": "ENST00000880789.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 2088,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880790.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550849.1",
"strand": false,
"transcript": "ENST00000880790.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880791.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550850.1",
"strand": false,
"transcript": "ENST00000880791.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880792.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550851.1",
"strand": false,
"transcript": "ENST00000880792.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880795.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550854.1",
"strand": false,
"transcript": "ENST00000880795.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2936,
"cdna_start": 2142,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880796.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550855.1",
"strand": false,
"transcript": "ENST00000880796.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880797.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550856.1",
"strand": false,
"transcript": "ENST00000880797.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880798.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550857.1",
"strand": false,
"transcript": "ENST00000880798.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2753,
"cdna_start": 2039,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880799.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550858.1",
"strand": false,
"transcript": "ENST00000880799.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 1914,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880800.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550859.1",
"strand": false,
"transcript": "ENST00000880800.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880801.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550860.1",
"strand": false,
"transcript": "ENST00000880801.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2545,
"cdna_start": 1751,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880802.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550861.1",
"strand": false,
"transcript": "ENST00000880802.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 1782,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880803.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550862.1",
"strand": false,
"transcript": "ENST00000880803.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2605,
"cdna_start": 1814,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946052.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616111.1",
"strand": false,
"transcript": "ENST00000946052.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": 2002,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946053.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616112.1",
"strand": false,
"transcript": "ENST00000946053.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3260,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946055.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616114.1",
"strand": false,
"transcript": "ENST00000946055.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 2929,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946057.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616116.1",
"strand": false,
"transcript": "ENST00000946057.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 2266,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946059.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616118.1",
"strand": false,
"transcript": "ENST00000946059.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 2504,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946060.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616119.1",
"strand": false,
"transcript": "ENST00000946060.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3537,
"cdna_start": 2814,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946062.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616121.1",
"strand": false,
"transcript": "ENST00000946062.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946063.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616122.1",
"strand": false,
"transcript": "ENST00000946063.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946064.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616123.1",
"strand": false,
"transcript": "ENST00000946064.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946065.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616124.1",
"strand": false,
"transcript": "ENST00000946065.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 661,
"aa_ref": "G",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946058.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1640_1641delGTinsTC",
"hgvs_p": "p.Gly547Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616117.1",
"strand": false,
"transcript": "ENST00000946058.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 655,
"aa_ref": "G",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880793.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1613_1614delGTinsTC",
"hgvs_p": "p.Gly538Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550852.1",
"strand": false,
"transcript": "ENST00000880793.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 539,
"aa_ref": "G",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001291976.2",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1265_1266delGTinsTC",
"hgvs_p": "p.Gly422Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278905.1",
"strand": false,
"transcript": "NM_001291976.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 539,
"aa_ref": "G",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001291977.2",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1265_1266delGTinsTC",
"hgvs_p": "p.Gly422Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278906.1",
"strand": false,
"transcript": "NM_001291977.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 539,
"aa_ref": "G",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503414.5",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1265_1266delGTinsTC",
"hgvs_p": "p.Gly422Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422903.1",
"strand": false,
"transcript": "ENST00000503414.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 276,
"aa_ref": "G",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1684,
"cdna_start": 893,
"cds_end": null,
"cds_length": 831,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946056.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.476_477delGTinsTC",
"hgvs_p": "p.Gly159Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616115.1",
"strand": false,
"transcript": "ENST00000946056.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 578,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": null,
"cds_end": null,
"cds_length": 1737,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946061.1",
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"hgvs_c": "c.1411-1932_1411-1931delGTinsTC",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616120.1",
"strand": false,
"transcript": "ENST00000946061.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 11220,
"gene_symbol": "SPARCL1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.126,
"pos": 87482451,
"ref": "AC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_004684.6"
}
]
}