← 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: 4-47595892-ACC-GCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=47595892&ref=ACC&alt=GCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CORIN",
"hgnc_id": 19012,
"hgvs_c": "c.2956_2958delGGTinsTGC",
"hgvs_p": "p.Gly986Cys",
"inheritance_mode": "Unknown",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_006587.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCA",
"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": "C",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 986,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4967,
"cdna_start": 3076,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2956,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006587.4",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2956_2958delGGTinsTGC",
"hgvs_p": "p.Gly986Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000273857.9",
"protein_coding": true,
"protein_id": "NP_006578.2",
"strand": false,
"transcript": "NM_006587.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 986,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4967,
"cdna_start": 3076,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2956,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000273857.9",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2956_2958delGGTinsTGC",
"hgvs_p": "p.Gly986Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006587.4",
"protein_coding": true,
"protein_id": "ENSP00000273857.4",
"strand": false,
"transcript": "ENST00000273857.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "G",
"aa_start": 1011,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3609,
"cdna_start": 3212,
"cds_end": null,
"cds_length": 3204,
"cds_start": 3031,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961995.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.3031_3033delGGTinsTGC",
"hgvs_p": "p.Gly1011Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632054.1",
"strand": false,
"transcript": "ENST00000961995.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "G",
"aa_start": 980,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5012,
"cdna_start": 3119,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2938,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961980.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2938_2940delGGTinsTGC",
"hgvs_p": "p.Gly980Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632039.1",
"strand": false,
"transcript": "ENST00000961980.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "G",
"aa_start": 959,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4888,
"cdna_start": 3000,
"cds_end": null,
"cds_length": 3048,
"cds_start": 2875,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961985.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2875_2877delGGTinsTGC",
"hgvs_p": "p.Gly959Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632044.1",
"strand": false,
"transcript": "ENST00000961985.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "G",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 2983,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2863,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961989.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2863_2865delGGTinsTGC",
"hgvs_p": "p.Gly955Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632048.1",
"strand": false,
"transcript": "ENST00000961989.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "G",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4893,
"cdna_start": 3002,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2848,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891633.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2848_2850delGGTinsTGC",
"hgvs_p": "p.Gly950Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561692.1",
"strand": false,
"transcript": "ENST00000891633.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "G",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 3033,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2848,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891636.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2848_2850delGGTinsTGC",
"hgvs_p": "p.Gly950Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561695.1",
"strand": false,
"transcript": "ENST00000891636.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "G",
"aa_start": 949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 2847,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2845,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505909.5",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2845_2847delGGTinsTGC",
"hgvs_p": "p.Gly949Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425401.1",
"strand": false,
"transcript": "ENST00000505909.5",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "G",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4892,
"cdna_start": 3001,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2842,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891632.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2842_2844delGGTinsTGC",
"hgvs_p": "p.Gly948Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561691.1",
"strand": false,
"transcript": "ENST00000891632.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "G",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4847,
"cdna_start": 2959,
"cds_end": null,
"cds_length": 3012,
"cds_start": 2839,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961993.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2839_2841delGGTinsTGC",
"hgvs_p": "p.Gly947Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632052.1",
"strand": false,
"transcript": "ENST00000961993.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 979,
"aa_ref": "G",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 2946,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2767,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961994.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2767_2769delGGTinsTGC",
"hgvs_p": "p.Gly923Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632053.1",
"strand": false,
"transcript": "ENST00000961994.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 975,
"aa_ref": "G",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": 2880,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000502252.5",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2755_2757delGGTinsTGC",
"hgvs_p": "p.Gly919Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424212.1",
"strand": false,
"transcript": "ENST00000502252.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 970,
"aa_ref": "G",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4788,
"cdna_start": 2899,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2740,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961982.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2740_2742delGGTinsTGC",
"hgvs_p": "p.Gly914Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632041.1",
"strand": false,
"transcript": "ENST00000961982.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 969,
"aa_ref": "G",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3713,
"cdna_start": 2922,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2737,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891635.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2737_2739delGGTinsTGC",
"hgvs_p": "p.Gly913Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561694.1",
"strand": false,
"transcript": "ENST00000891635.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 969,
"aa_ref": "G",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4782,
"cdna_start": 2896,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2737,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961984.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2737_2739delGGTinsTGC",
"hgvs_p": "p.Gly913Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632043.1",
"strand": false,
"transcript": "ENST00000961984.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 969,
"aa_ref": "G",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4748,
"cdna_start": 2857,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2737,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961988.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2737_2739delGGTinsTGC",
"hgvs_p": "p.Gly913Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632047.1",
"strand": false,
"transcript": "ENST00000961988.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 967,
"aa_ref": "G",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 2851,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2731,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961991.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2731_2733delGGTinsTGC",
"hgvs_p": "p.Gly911Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632050.1",
"strand": false,
"transcript": "ENST00000961991.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 939,
"aa_ref": "G",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4663,
"cdna_start": 2772,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2647,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891634.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2647_2649delGGTinsTGC",
"hgvs_p": "p.Gly883Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561693.1",
"strand": false,
"transcript": "ENST00000891634.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 938,
"aa_ref": "G",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": 2764,
"cds_end": null,
"cds_length": 2817,
"cds_start": 2644,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278585.2",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2644_2646delGGTinsTGC",
"hgvs_p": "p.Gly882Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265514.1",
"strand": false,
"transcript": "NM_001278585.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 938,
"aa_ref": "G",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 2803,
"cds_end": null,
"cds_length": 2817,
"cds_start": 2644,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000610355.4",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2644_2646delGGTinsTGC",
"hgvs_p": "p.Gly882Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484087.1",
"strand": false,
"transcript": "ENST00000610355.4",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 933,
"aa_ref": "G",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4637,
"cdna_start": 2749,
"cds_end": null,
"cds_length": 2802,
"cds_start": 2629,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961992.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2629_2631delGGTinsTGC",
"hgvs_p": "p.Gly877Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632051.1",
"strand": false,
"transcript": "ENST00000961992.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 928,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 2734,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961986.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2614_2616delGGTinsTGC",
"hgvs_p": "p.Gly872Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632045.1",
"strand": false,
"transcript": "ENST00000961986.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 903,
"aa_ref": "G",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 2790,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2539,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000508498.5",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2539_2541delGGTinsTGC",
"hgvs_p": "p.Gly847Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425597.1",
"strand": false,
"transcript": "ENST00000508498.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 902,
"aa_ref": "G",
"aa_start": 846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4544,
"cdna_start": 2656,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2536,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961990.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2536_2538delGGTinsTGC",
"hgvs_p": "p.Gly846Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632049.1",
"strand": false,
"transcript": "ENST00000961990.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 804,
"aa_ref": "G",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2242,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961987.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2242_2244delGGTinsTGC",
"hgvs_p": "p.Gly748Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632046.1",
"strand": false,
"transcript": "ENST00000961987.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 768,
"aa_ref": "G",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4181,
"cdna_start": 2293,
"cds_end": null,
"cds_length": 2307,
"cds_start": 2134,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961983.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2134_2136delGGTinsTGC",
"hgvs_p": "p.Gly712Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632042.1",
"strand": false,
"transcript": "ENST00000961983.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 732,
"aa_ref": "G",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4084,
"cdna_start": 2194,
"cds_end": null,
"cds_length": 2199,
"cds_start": 2026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961981.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2026_2028delGGTinsTGC",
"hgvs_p": "p.Gly676Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632040.1",
"strand": false,
"transcript": "ENST00000961981.1",
"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": 19012,
"gene_symbol": "CORIN",
"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": "Pathogenic",
"phylop100way_score": 7.702,
"pos": 47595892,
"ref": "ACC",
"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_006587.4"
}
]
}