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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: 6-36743739-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=36743739&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 36743739,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001410887.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Asp505Asn",
"transcript": "NM_020939.2",
"protein_id": "NP_065990.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 593,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000244751.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020939.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Asp505Asn",
"transcript": "ENST00000244751.7",
"protein_id": "ENSP00000244751.2",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 593,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020939.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244751.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Asp213Asn",
"transcript": "ENST00000393189.2",
"protein_id": "ENSP00000376885.2",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 301,
"cds_start": 637,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393189.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "n.693G>A",
"hgvs_p": null,
"transcript": "ENST00000493411.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493411.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Asp522Asn",
"transcript": "NM_001410887.1",
"protein_id": "NP_001397816.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 610,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410887.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Asp522Asn",
"transcript": "ENST00000633136.2",
"protein_id": "ENSP00000487872.2",
"transcript_support_level": 5,
"aa_start": 522,
"aa_end": null,
"aa_length": 610,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633136.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Asp522Asn",
"transcript": "NM_001376889.1",
"protein_id": "NP_001363818.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 553,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376889.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Asp213Asn",
"transcript": "NM_001376895.1",
"protein_id": "NP_001363824.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 361,
"cds_start": 637,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376895.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Asp155Asn",
"transcript": "NM_001376892.1",
"protein_id": "NP_001363821.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 303,
"cds_start": 463,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376892.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Asp155Asn",
"transcript": "NM_001376893.1",
"protein_id": "NP_001363822.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 303,
"cds_start": 463,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376893.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Asp213Asn",
"transcript": "NM_001314018.2",
"protein_id": "NP_001300947.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 301,
"cds_start": 637,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001314018.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Asp213Asn",
"transcript": "NM_001376890.1",
"protein_id": "NP_001363819.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 301,
"cds_start": 637,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376890.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Asp213Asn",
"transcript": "NM_001376891.1",
"protein_id": "NP_001363820.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 244,
"cds_start": 637,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376891.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Asp155Asn",
"transcript": "NM_001314019.2",
"protein_id": "NP_001300948.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 243,
"cds_start": 463,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001314019.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Asp155Asn",
"transcript": "NM_001314020.2",
"protein_id": "NP_001300949.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 243,
"cds_start": 463,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001314020.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Asp155Asn",
"transcript": "NM_001376888.1",
"protein_id": "NP_001363817.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 243,
"cds_start": 463,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376888.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Asp522Asn",
"transcript": "XM_011514768.2",
"protein_id": "XP_011513070.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 670,
"cds_start": 1564,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514768.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Asp505Asn",
"transcript": "XM_011514769.2",
"protein_id": "XP_011513071.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 653,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514769.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Asp484Asn",
"transcript": "XM_011514770.2",
"protein_id": "XP_011513072.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 632,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514770.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Asp484Asn",
"transcript": "XM_011514771.3",
"protein_id": "XP_011513073.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 632,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514771.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Asp484Asn",
"transcript": "XM_047419190.1",
"protein_id": "XP_047275146.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 632,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419190.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Asp374Asn",
"transcript": "XM_017011139.3",
"protein_id": "XP_016866628.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 522,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011139.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
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"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "XM_011514773.3",
"protein_id": "XP_011513075.1",
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"aa_start": 325,
"aa_end": null,
"aa_length": 473,
"cds_start": 973,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514773.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Asp374Asn",
"transcript": "XM_047419191.1",
"protein_id": "XP_047275147.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 462,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419191.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Thr261Thr",
"transcript": "NM_001376894.1",
"protein_id": "NP_001363823.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 293,
"cds_start": 783,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376894.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "n.796G>A",
"hgvs_p": null,
"transcript": "ENST00000459703.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000459703.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "n.902G>A",
"hgvs_p": null,
"transcript": "ENST00000633929.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000633929.1"
}
],
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"dbsnp": "rs1054285197",
"frequency_reference_population": 0.000008682192,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000410885,
"gnomad_genomes_af": 0.0000525507,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32051217555999756,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.1088,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410887.1",
"gene_symbol": "CPNE5",
"hgnc_id": 2318,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Asp522Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}