← 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: 4-47603488-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=47603488&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 47603488,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006587.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2721C>T",
"hgvs_p": "p.Tyr907Tyr",
"transcript": "NM_006587.4",
"protein_id": "NP_006578.2",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2721,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000273857.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006587.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2721C>T",
"hgvs_p": "p.Tyr907Tyr",
"transcript": "ENST00000273857.9",
"protein_id": "ENSP00000273857.4",
"transcript_support_level": 1,
"aa_start": 907,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2721,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006587.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273857.9"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2796C>T",
"hgvs_p": "p.Tyr932Tyr",
"transcript": "ENST00000961995.1",
"protein_id": "ENSP00000632054.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2796,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961995.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2703C>T",
"hgvs_p": "p.Tyr901Tyr",
"transcript": "ENST00000961980.1",
"protein_id": "ENSP00000632039.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2703,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961980.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2640C>T",
"hgvs_p": "p.Tyr880Tyr",
"transcript": "ENST00000961985.1",
"protein_id": "ENSP00000632044.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2640,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961985.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2628C>T",
"hgvs_p": "p.Tyr876Tyr",
"transcript": "ENST00000961989.1",
"protein_id": "ENSP00000632048.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2628,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961989.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2613C>T",
"hgvs_p": "p.Tyr871Tyr",
"transcript": "ENST00000891633.1",
"protein_id": "ENSP00000561692.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2613,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891633.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2613C>T",
"hgvs_p": "p.Tyr871Tyr",
"transcript": "ENST00000891636.1",
"protein_id": "ENSP00000561695.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2613,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891636.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2610C>T",
"hgvs_p": "p.Tyr870Tyr",
"transcript": "ENST00000505909.5",
"protein_id": "ENSP00000425401.1",
"transcript_support_level": 5,
"aa_start": 870,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2610,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505909.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Tyr869Tyr",
"transcript": "ENST00000891632.1",
"protein_id": "ENSP00000561691.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2607,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891632.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2604C>T",
"hgvs_p": "p.Tyr868Tyr",
"transcript": "ENST00000961993.1",
"protein_id": "ENSP00000632052.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2604,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961993.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2532C>T",
"hgvs_p": "p.Tyr844Tyr",
"transcript": "ENST00000961994.1",
"protein_id": "ENSP00000632053.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 979,
"cds_start": 2532,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961994.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2520C>T",
"hgvs_p": "p.Tyr840Tyr",
"transcript": "ENST00000502252.5",
"protein_id": "ENSP00000424212.1",
"transcript_support_level": 2,
"aa_start": 840,
"aa_end": null,
"aa_length": 975,
"cds_start": 2520,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502252.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2505C>T",
"hgvs_p": "p.Tyr835Tyr",
"transcript": "ENST00000961982.1",
"protein_id": "ENSP00000632041.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 970,
"cds_start": 2505,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961982.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2502C>T",
"hgvs_p": "p.Tyr834Tyr",
"transcript": "ENST00000891635.1",
"protein_id": "ENSP00000561694.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 969,
"cds_start": 2502,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891635.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2502C>T",
"hgvs_p": "p.Tyr834Tyr",
"transcript": "ENST00000961984.1",
"protein_id": "ENSP00000632043.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 969,
"cds_start": 2502,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961984.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2502C>T",
"hgvs_p": "p.Tyr834Tyr",
"transcript": "ENST00000961988.1",
"protein_id": "ENSP00000632047.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 969,
"cds_start": 2502,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961988.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2496C>T",
"hgvs_p": "p.Tyr832Tyr",
"transcript": "ENST00000961991.1",
"protein_id": "ENSP00000632050.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 967,
"cds_start": 2496,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961991.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2412C>T",
"hgvs_p": "p.Tyr804Tyr",
"transcript": "ENST00000891634.1",
"protein_id": "ENSP00000561693.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 939,
"cds_start": 2412,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891634.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2409C>T",
"hgvs_p": "p.Tyr803Tyr",
"transcript": "NM_001278585.2",
"protein_id": "NP_001265514.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 938,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278585.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2409C>T",
"hgvs_p": "p.Tyr803Tyr",
"transcript": "ENST00000610355.4",
"protein_id": "ENSP00000484087.1",
"transcript_support_level": 5,
"aa_start": 803,
"aa_end": null,
"aa_length": 938,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610355.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2394C>T",
"hgvs_p": "p.Tyr798Tyr",
"transcript": "ENST00000961992.1",
"protein_id": "ENSP00000632051.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 933,
"cds_start": 2394,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961992.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2379C>T",
"hgvs_p": "p.Tyr793Tyr",
"transcript": "ENST00000961986.1",
"protein_id": "ENSP00000632045.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 928,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961986.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2304C>T",
"hgvs_p": "p.Tyr768Tyr",
"transcript": "ENST00000508498.5",
"protein_id": "ENSP00000425597.1",
"transcript_support_level": 2,
"aa_start": 768,
"aa_end": null,
"aa_length": 903,
"cds_start": 2304,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508498.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2301C>T",
"hgvs_p": "p.Tyr767Tyr",
"transcript": "ENST00000961990.1",
"protein_id": "ENSP00000632049.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 902,
"cds_start": 2301,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961990.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Tyr669Tyr",
"transcript": "ENST00000961987.1",
"protein_id": "ENSP00000632046.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 804,
"cds_start": 2007,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961987.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1899C>T",
"hgvs_p": "p.Tyr633Tyr",
"transcript": "ENST00000961983.1",
"protein_id": "ENSP00000632042.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 768,
"cds_start": 1899,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961983.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1791C>T",
"hgvs_p": "p.Tyr597Tyr",
"transcript": "ENST00000961981.1",
"protein_id": "ENSP00000632040.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 732,
"cds_start": 1791,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961981.1"
}
],
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"dbsnp": "rs61759670",
"frequency_reference_population": 0.020841362,
"hom_count_reference_population": 729,
"allele_count_reference_population": 33640,
"gnomad_exomes_af": 0.0211653,
"gnomad_genomes_af": 0.0177312,
"gnomad_exomes_ac": 30940,
"gnomad_genomes_ac": 2700,
"gnomad_exomes_homalt": 675,
"gnomad_genomes_homalt": 54,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.229,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_006587.4",
"gene_symbol": "CORIN",
"hgnc_id": 19012,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2721C>T",
"hgvs_p": "p.Tyr907Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}