← 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: 7-29092653-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=29092653&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 29092653,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001371264.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_031311.5",
"protein_id": "NP_112601.3",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": "ENST00000265394.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031311.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000265394.10",
"protein_id": "ENSP00000265394.5",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": "NM_031311.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265394.10"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000396276.7",
"protein_id": "ENSP00000379572.3",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396276.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_001371264.1",
"protein_id": "NP_001358193.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 490,
"cds_start": 512,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371264.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_001348052.1",
"protein_id": "NP_001334981.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348052.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_001348054.1",
"protein_id": "NP_001334983.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348054.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_001371255.1",
"protein_id": "NP_001358184.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371255.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_001371256.1",
"protein_id": "NP_001358185.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371256.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_001371257.1",
"protein_id": "NP_001358186.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371257.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_001371258.1",
"protein_id": "NP_001358187.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371258.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_001371260.1",
"protein_id": "NP_001358189.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371260.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_001371261.1",
"protein_id": "NP_001358190.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371261.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_001371262.1",
"protein_id": "NP_001358191.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371262.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_001371263.1",
"protein_id": "NP_001358192.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371263.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "NM_019029.3",
"protein_id": "NP_061902.2",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019029.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000409850.5",
"protein_id": "ENSP00000387164.1",
"transcript_support_level": 2,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409850.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000886318.1",
"protein_id": "ENSP00000556377.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886318.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000886319.1",
"protein_id": "ENSP00000556378.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886319.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000886320.1",
"protein_id": "ENSP00000556379.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886320.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000886326.1",
"protein_id": "ENSP00000556385.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886326.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000933745.1",
"protein_id": "ENSP00000603804.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933745.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000959721.1",
"protein_id": "ENSP00000629780.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959721.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000959730.1",
"protein_id": "ENSP00000629789.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959730.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000959725.1",
"protein_id": "ENSP00000629784.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 475,
"cds_start": 512,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959725.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asn169Ser",
"transcript": "ENST00000886322.1",
"protein_id": "ENSP00000556381.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 474,
"cds_start": 506,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886322.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asn169Ser",
"transcript": "ENST00000933753.1",
"protein_id": "ENSP00000603812.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 474,
"cds_start": 506,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933753.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000959727.1",
"protein_id": "ENSP00000629786.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 434,
"cds_start": 512,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959727.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000886321.1",
"protein_id": "ENSP00000556380.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 418,
"cds_start": 512,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886321.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Asn113Ser",
"transcript": "ENST00000886323.1",
"protein_id": "ENSP00000556382.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 418,
"cds_start": 338,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886323.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000933747.1",
"protein_id": "ENSP00000603806.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 418,
"cds_start": 512,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933747.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Asn113Ser",
"transcript": "ENST00000933750.1",
"protein_id": "ENSP00000603809.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 418,
"cds_start": 338,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933750.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000959729.1",
"protein_id": "ENSP00000629788.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 418,
"cds_start": 512,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959729.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Asn169Ser",
"transcript": "ENST00000959728.1",
"protein_id": "ENSP00000629787.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 416,
"cds_start": 506,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959728.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000933748.1",
"protein_id": "ENSP00000603807.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 415,
"cds_start": 512,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933748.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Asn101Ser",
"transcript": "NM_001371265.1",
"protein_id": "NP_001358194.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 406,
"cds_start": 302,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371265.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Asn101Ser",
"transcript": "NM_001371266.1",
"protein_id": "NP_001358195.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 406,
"cds_start": 302,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371266.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Asn101Ser",
"transcript": "NM_001371267.1",
"protein_id": "NP_001358196.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 406,
"cds_start": 302,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371267.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.278A>G",
"hgvs_p": "p.Asn93Ser",
"transcript": "ENST00000886325.1",
"protein_id": "ENSP00000556384.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 398,
"cds_start": 278,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886325.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.278A>G",
"hgvs_p": "p.Asn93Ser",
"transcript": "ENST00000933746.1",
"protein_id": "ENSP00000603805.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 398,
"cds_start": 278,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933746.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000933751.1",
"protein_id": "ENSP00000603810.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 391,
"cds_start": 512,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 1458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933751.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000959722.1",
"protein_id": "ENSP00000629781.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 391,
"cds_start": 512,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959722.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000933752.1",
"protein_id": "ENSP00000603811.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 324,
"cds_start": 512,
"cds_end": null,
"cds_length": 975,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933752.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000959724.1",
"protein_id": "ENSP00000629783.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 324,
"cds_start": 512,
"cds_end": null,
"cds_length": 975,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959724.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "ENST00000933749.1",
"protein_id": "ENSP00000603808.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 300,
"cds_start": 512,
"cds_end": null,
"cds_length": 903,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933749.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Asn111Ser",
"transcript": "NM_001371268.1",
"protein_id": "NP_001358197.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 298,
"cds_start": 332,
"cds_end": null,
"cds_length": 897,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371268.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Asn101Ser",
"transcript": "ENST00000448959.5",
"protein_id": "ENSP00000409036.1",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 243,
"cds_start": 302,
"cds_end": null,
"cds_length": 734,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448959.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Asn101Ser",
"transcript": "ENST00000447426.1",
"protein_id": "ENSP00000395690.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 140,
"cds_start": 302,
"cds_end": null,
"cds_length": 425,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447426.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.164A>G",
"hgvs_p": "p.Asn55Ser",
"transcript": "ENST00000458405.5",
"protein_id": "ENSP00000417015.1",
"transcript_support_level": 4,
"aa_start": 55,
"aa_end": null,
"aa_length": 99,
"cds_start": 164,
"cds_end": null,
"cds_length": 302,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458405.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "XM_011515437.2",
"protein_id": "XP_011513739.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515437.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "XM_047420530.1",
"protein_id": "XP_047276486.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 476,
"cds_start": 512,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420530.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "XM_017012366.2",
"protein_id": "XP_016867855.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 385,
"cds_start": 512,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012366.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser",
"transcript": "XM_047420531.1",
"protein_id": "XP_047276487.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 385,
"cds_start": 512,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.288+20051A>G",
"hgvs_p": null,
"transcript": "ENST00000959726.1",
"protein_id": "ENSP00000629785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": null,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959726.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.288+20051A>G",
"hgvs_p": null,
"transcript": "ENST00000959723.1",
"protein_id": "ENSP00000629782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959723.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.22-26586A>G",
"hgvs_p": null,
"transcript": "ENST00000886324.1",
"protein_id": "ENSP00000556383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": null,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886324.1"
}
],
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"dbsnp": "rs775653828",
"frequency_reference_population": 0.0000054731768,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547318,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16564568877220154,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.0865,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.444,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001371264.1",
"gene_symbol": "CPVL",
"hgnc_id": 14399,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Asn171Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}