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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: 13-25699239-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=25699239&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 25699239,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000381655.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2278G>A",
"hgvs_p": "p.Val760Met",
"transcript": "NM_016529.6",
"protein_id": "NP_057613.4",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2278,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 9672,
"mane_select": "ENST00000381655.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2278G>A",
"hgvs_p": "p.Val760Met",
"transcript": "ENST00000381655.7",
"protein_id": "ENSP00000371070.2",
"transcript_support_level": 1,
"aa_start": 760,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2278,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 2517,
"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": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*1905G>A",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.1149G>A",
"hgvs_p": null,
"transcript": "ENST00000491840.1",
"protein_id": null,
"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": 2227,
"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": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*1905G>A",
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2278G>A",
"hgvs_p": "p.Val760Met",
"transcript": "NM_001411005.1",
"protein_id": "NP_001397934.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2278,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 9597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2278G>A",
"hgvs_p": "p.Val760Met",
"transcript": "ENST00000682472.1",
"protein_id": "ENSP00000508103.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2278,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 8618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Val720Met",
"transcript": "ENST00000684424.1",
"protein_id": "ENSP00000507489.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2158,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2341,
"cdna_end": null,
"cdna_length": 8756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Val720Met",
"transcript": "NM_001313741.1",
"protein_id": "NP_001300670.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2158,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2269,
"cdna_end": null,
"cdna_length": 9349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2278G>A",
"hgvs_p": "p.Val760Met",
"transcript": "NM_001411006.1",
"protein_id": "NP_001397935.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2278,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Val720Met",
"transcript": "XM_005266419.2",
"protein_id": "XP_005266476.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2158,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2269,
"cdna_end": null,
"cdna_length": 9424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Val720Met",
"transcript": "XM_011535104.3",
"protein_id": "XP_011533406.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2158,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 9407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Val720Met",
"transcript": "XM_047430383.1",
"protein_id": "XP_047286339.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2158,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 10142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2278G>A",
"hgvs_p": "p.Val760Met",
"transcript": "XM_011535107.4",
"protein_id": "XP_011533409.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2278,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1798G>A",
"hgvs_p": "p.Val600Met",
"transcript": "XM_011535109.4",
"protein_id": "XP_011533411.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 1028,
"cds_start": 1798,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 4055,
"cdna_end": null,
"cdna_length": 11210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Val562Met",
"transcript": "XM_024449369.1",
"protein_id": "XP_024305137.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 990,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2973,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 9072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2278G>A",
"hgvs_p": "p.Val760Met",
"transcript": "XM_011535113.3",
"protein_id": "XP_011533415.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 803,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 2814,
"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": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.2719G>A",
"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": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*1812G>A",
"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,
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"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": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.2278G>A",
"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": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.2718G>A",
"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": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.2190G>A",
"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": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.2278G>A",
"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": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.2343G>A",
"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,
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"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": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.2278G>A",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*1812G>A",
"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": "rs35540339",
"frequency_reference_population": 0.010069785,
"hom_count_reference_population": 132,
"allele_count_reference_population": 16248,
"gnomad_exomes_af": 0.0102288,
"gnomad_genomes_af": 0.00854403,
"gnomad_exomes_ac": 14947,
"gnomad_genomes_ac": 1301,
"gnomad_exomes_homalt": 113,
"gnomad_genomes_homalt": 19,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004855811595916748,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.114,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.288,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000381655.7",
"gene_symbol": "ATP8A2",
"hgnc_id": 13533,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2278G>A",
"hgvs_p": "p.Val760Met"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}