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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: 16-84459312-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84459312&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84459312,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001286527.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2259C>G",
"hgvs_p": "p.Phe753Leu",
"transcript": "NM_014861.4",
"protein_id": "NP_055676.3",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 946,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262429.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014861.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2259C>G",
"hgvs_p": "p.Phe753Leu",
"transcript": "ENST00000262429.9",
"protein_id": "ENSP00000262429.4",
"transcript_support_level": 1,
"aa_start": 753,
"aa_end": null,
"aa_length": 946,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014861.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262429.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2259C>G",
"hgvs_p": "p.Phe753Leu",
"transcript": "ENST00000416219.7",
"protein_id": "ENSP00000397925.2",
"transcript_support_level": 1,
"aa_start": 753,
"aa_end": null,
"aa_length": 975,
"cds_start": 2259,
"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": "ENST00000416219.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2-AS1",
"gene_hgnc_id": 53167,
"hgvs_c": "n.2945G>C",
"hgvs_p": null,
"transcript": "ENST00000565700.1",
"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": "ENST00000565700.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2259C>G",
"hgvs_p": "p.Phe753Leu",
"transcript": "NM_001286527.3",
"protein_id": "NP_001273456.2",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 975,
"cds_start": 2259,
"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": "NM_001286527.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2334C>G",
"hgvs_p": "p.Phe778Leu",
"transcript": "ENST00000861763.1",
"protein_id": "ENSP00000531822.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 971,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861763.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2334C>G",
"hgvs_p": "p.Phe778Leu",
"transcript": "ENST00000861768.1",
"protein_id": "ENSP00000531827.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 971,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861768.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2277C>G",
"hgvs_p": "p.Phe759Leu",
"transcript": "ENST00000861767.1",
"protein_id": "ENSP00000531826.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 952,
"cds_start": 2277,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861767.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2253C>G",
"hgvs_p": "p.Phe751Leu",
"transcript": "ENST00000861766.1",
"protein_id": "ENSP00000531825.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 944,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861766.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2253C>G",
"hgvs_p": "p.Phe751Leu",
"transcript": "ENST00000957789.1",
"protein_id": "ENSP00000627848.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 944,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957789.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2250C>G",
"hgvs_p": "p.Phe750Leu",
"transcript": "ENST00000861764.1",
"protein_id": "ENSP00000531823.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 943,
"cds_start": 2250,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861764.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2247C>G",
"hgvs_p": "p.Phe749Leu",
"transcript": "ENST00000861771.1",
"protein_id": "ENSP00000531830.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 942,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861771.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2157C>G",
"hgvs_p": "p.Phe719Leu",
"transcript": "ENST00000957791.1",
"protein_id": "ENSP00000627850.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 941,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957791.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2157C>G",
"hgvs_p": "p.Phe719Leu",
"transcript": "ENST00000861762.1",
"protein_id": "ENSP00000531821.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 912,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861762.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2148C>G",
"hgvs_p": "p.Phe716Leu",
"transcript": "ENST00000957790.1",
"protein_id": "ENSP00000627849.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 909,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957790.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2088C>G",
"hgvs_p": "p.Phe696Leu",
"transcript": "ENST00000861770.1",
"protein_id": "ENSP00000531829.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 889,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861770.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2040C>G",
"hgvs_p": "p.Phe680Leu",
"transcript": "ENST00000861765.1",
"protein_id": "ENSP00000531824.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 873,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861765.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.1806C>G",
"hgvs_p": "p.Phe602Leu",
"transcript": "NM_001291454.2",
"protein_id": "NP_001278383.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 795,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291454.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2190C>G",
"hgvs_p": "p.Phe730Leu",
"transcript": "XM_011523486.3",
"protein_id": "XP_011521788.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 952,
"cds_start": 2190,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523486.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2190C>G",
"hgvs_p": "p.Phe730Leu",
"transcript": "XM_047434994.1",
"protein_id": "XP_047290950.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 923,
"cds_start": 2190,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434994.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.1230C>G",
"hgvs_p": "p.Phe410Leu",
"transcript": "XM_011523487.3",
"protein_id": "XP_011521789.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 632,
"cds_start": 1230,
"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_011523487.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.2216+124C>G",
"hgvs_p": null,
"transcript": "ENST00000861769.1",
"protein_id": "ENSP00000531828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 24,
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 25,
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"gene_symbol": "ATP2C2",
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"biotype": "retained_intron",
"feature": "ENST00000565631.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"transcript": "NR_146503.1",
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"cds_end": null,
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"biotype": "pseudogene",
"feature": "NR_146503.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "ATP2C2",
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"feature": "ENST00000567892.5"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "ENSG00000305404",
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"hgvs_c": "n.-236G>C",
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"transcript": "ENST00000810789.1",
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"cdna_end": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000810789.1"
}
],
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"dbsnp": "rs1169975253",
"frequency_reference_population": 6.840497e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8405e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11531692743301392,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.275,
"revel_prediction": "Benign",
"alphamissense_score": 0.1959,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.087,
"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_001286527.3",
"gene_symbol": "ATP2C2",
"hgnc_id": 29103,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2259C>G",
"hgvs_p": "p.Phe753Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000565700.1",
"gene_symbol": "ATP2C2-AS1",
"hgnc_id": 53167,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2945G>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000810789.1",
"gene_symbol": "ENSG00000305404",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-236G>C",
"hgvs_p": null
}
],
"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
}