← 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: 13-25553863-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=25553863&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 25553863,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000381655.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ile376Ile",
"transcript": "NM_016529.6",
"protein_id": "NP_057613.4",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1128,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 9672,
"mane_select": "ENST00000381655.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ile376Ile",
"transcript": "ENST00000381655.7",
"protein_id": "ENSP00000371070.2",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1128,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 9672,
"mane_select": "NM_016529.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*755C>T",
"hgvs_p": null,
"transcript": "ENST00000281620.11",
"protein_id": "ENSP00000281620.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*755C>T",
"hgvs_p": null,
"transcript": "ENST00000281620.11",
"protein_id": "ENSP00000281620.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ile376Ile",
"transcript": "NM_001411005.1",
"protein_id": "NP_001397934.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1128,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 9597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ile376Ile",
"transcript": "ENST00000682472.1",
"protein_id": "ENSP00000508103.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1128,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 8618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1008C>T",
"hgvs_p": "p.Ile336Ile",
"transcript": "ENST00000684424.1",
"protein_id": "ENSP00000507489.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1008,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 8756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1008C>T",
"hgvs_p": "p.Ile336Ile",
"transcript": "NM_001313741.1",
"protein_id": "NP_001300670.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1008,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 9349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ile376Ile",
"transcript": "NM_001411006.1",
"protein_id": "NP_001397935.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1128,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1008C>T",
"hgvs_p": "p.Ile336Ile",
"transcript": "XM_005266419.2",
"protein_id": "XP_005266476.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1008,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 9424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1008C>T",
"hgvs_p": "p.Ile336Ile",
"transcript": "XM_011535104.3",
"protein_id": "XP_011533406.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1008,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 9407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1008C>T",
"hgvs_p": "p.Ile336Ile",
"transcript": "XM_047430383.1",
"protein_id": "XP_047286339.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1008,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 1837,
"cdna_end": null,
"cdna_length": 10142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ile376Ile",
"transcript": "XM_011535107.4",
"protein_id": "XP_011533409.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1063,
"cds_start": 1128,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.648C>T",
"hgvs_p": "p.Ile216Ile",
"transcript": "XM_011535109.4",
"protein_id": "XP_011533411.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 1028,
"cds_start": 648,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2905,
"cdna_end": null,
"cdna_length": 11210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.534C>T",
"hgvs_p": "p.Ile178Ile",
"transcript": "XM_024449369.1",
"protein_id": "XP_024305137.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 990,
"cds_start": 534,
"cds_end": null,
"cds_length": 2973,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 9072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ile376Ile",
"transcript": "XM_011535113.3",
"protein_id": "XP_011533415.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 803,
"cds_start": 1128,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ile376Ile",
"transcript": "XM_017020625.3",
"protein_id": "XP_016876114.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 751,
"cds_start": 1128,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ile376Ile",
"transcript": "XM_017020626.2",
"protein_id": "XP_016876115.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 739,
"cds_start": 1128,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.1569C>T",
"hgvs_p": null,
"transcript": "ENST00000682942.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*662C>T",
"hgvs_p": null,
"transcript": "ENST00000682943.1",
"protein_id": "ENSP00000507323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.1128C>T",
"hgvs_p": null,
"transcript": "ENST00000683303.1",
"protein_id": "ENSP00000508339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.386C>T",
"hgvs_p": null,
"transcript": "ENST00000683455.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.1568C>T",
"hgvs_p": null,
"transcript": "ENST00000683845.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.1040C>T",
"hgvs_p": null,
"transcript": "ENST00000683945.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.1128C>T",
"hgvs_p": null,
"transcript": "ENST00000683960.1",
"protein_id": "ENSP00000506846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.1193C>T",
"hgvs_p": null,
"transcript": "ENST00000684025.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.1128C>T",
"hgvs_p": null,
"transcript": "ENST00000684283.1",
"protein_id": "ENSP00000507994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.299C>T",
"hgvs_p": null,
"transcript": "ENST00000684551.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*662C>T",
"hgvs_p": null,
"transcript": "ENST00000682943.1",
"protein_id": "ENSP00000507323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"dbsnp": "rs546968533",
"frequency_reference_population": 0.00003161661,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000273834,
"gnomad_genomes_af": 0.0000722079,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.575,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000381655.7",
"gene_symbol": "ATP8A2",
"hgnc_id": 13533,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Ile376Ile"
}
],
"clinvar_disease": "ATP8A2-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided|ATP8A2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}