← 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: 13-51937342-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=51937342&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 51937342,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000242839.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3955C>T",
"hgvs_p": "p.Arg1319*",
"transcript": "NM_000053.4",
"protein_id": "NP_000044.2",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3955,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4068,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": "ENST00000242839.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3955C>T",
"hgvs_p": "p.Arg1319*",
"transcript": "ENST00000242839.10",
"protein_id": "ENSP00000242839.5",
"transcript_support_level": 1,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3955,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4068,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": "NM_000053.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3811C>T",
"hgvs_p": "p.Arg1271*",
"transcript": "ENST00000634844.1",
"protein_id": "ENSP00000489398.1",
"transcript_support_level": 1,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3811,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3885,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3760C>T",
"hgvs_p": "p.Arg1254*",
"transcript": "ENST00000418097.7",
"protein_id": "ENSP00000393343.2",
"transcript_support_level": 1,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3760,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3703C>T",
"hgvs_p": "p.Arg1235*",
"transcript": "ENST00000448424.7",
"protein_id": "ENSP00000416738.3",
"transcript_support_level": 1,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3703,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3956,
"cdna_end": null,
"cdna_length": 6451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3622C>T",
"hgvs_p": "p.Arg1208*",
"transcript": "ENST00000400366.6",
"protein_id": "ENSP00000383217.3",
"transcript_support_level": 1,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3622,
"cds_end": null,
"cds_length": 4065,
"cdna_start": 3622,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2665C>T",
"hgvs_p": "p.Arg889*",
"transcript": "ENST00000400370.8",
"protein_id": "ENSP00000383221.3",
"transcript_support_level": 1,
"aa_start": 889,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2665,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2739,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1056C>T",
"hgvs_p": null,
"transcript": "ENST00000634308.1",
"protein_id": "ENSP00000489234.1",
"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": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.4699C>T",
"hgvs_p": null,
"transcript": "ENST00000634620.1",
"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": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.3300C>T",
"hgvs_p": null,
"transcript": "ENST00000634810.1",
"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": 5825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1056C>T",
"hgvs_p": null,
"transcript": "ENST00000634308.1",
"protein_id": "ENSP00000489234.1",
"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": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3955C>T",
"hgvs_p": "p.Arg1319*",
"transcript": "NM_001406511.1",
"protein_id": "NP_001393440.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3955,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4122,
"cdna_end": null,
"cdna_length": 6652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3955C>T",
"hgvs_p": "p.Arg1319*",
"transcript": "NM_001406512.1",
"protein_id": "NP_001393441.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3955,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4361,
"cdna_end": null,
"cdna_length": 6891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3949C>T",
"hgvs_p": "p.Arg1317*",
"transcript": "NM_001406513.1",
"protein_id": "NP_001393442.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3949,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 4116,
"cdna_end": null,
"cdna_length": 6646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3922C>T",
"hgvs_p": "p.Arg1308*",
"transcript": "NM_001406514.1",
"protein_id": "NP_001393443.1",
"transcript_support_level": null,
"aa_start": 1308,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3922,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 4035,
"cdna_end": null,
"cdna_length": 6565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3901C>T",
"hgvs_p": "p.Arg1301*",
"transcript": "NM_001406515.1",
"protein_id": "NP_001393444.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3901,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 4014,
"cdna_end": null,
"cdna_length": 6544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3901C>T",
"hgvs_p": "p.Arg1301*",
"transcript": "NM_001406516.1",
"protein_id": "NP_001393445.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3901,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 4307,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3859C>T",
"hgvs_p": "p.Arg1287*",
"transcript": "NM_001406517.1",
"protein_id": "NP_001393446.1",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3859,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 3972,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3859C>T",
"hgvs_p": "p.Arg1287*",
"transcript": "NM_001406518.1",
"protein_id": "NP_001393447.1",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3859,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4159,
"cdna_end": null,
"cdna_length": 6689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3820C>T",
"hgvs_p": "p.Arg1274*",
"transcript": "NM_001406519.1",
"protein_id": "NP_001393448.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1420,
"cds_start": 3820,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 3933,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3811C>T",
"hgvs_p": "p.Arg1271*",
"transcript": "NM_001406520.1",
"protein_id": "NP_001393449.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3811,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3924,
"cdna_end": null,
"cdna_length": 6454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3811C>T",
"hgvs_p": "p.Arg1271*",
"transcript": "NM_001406521.1",
"protein_id": "NP_001393450.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3811,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3978,
"cdna_end": null,
"cdna_length": 6508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3811C>T",
"hgvs_p": "p.Arg1271*",
"transcript": "NM_001406522.1",
"protein_id": "NP_001393451.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3811,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4217,
"cdna_end": null,
"cdna_length": 6747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3778C>T",
"hgvs_p": "p.Arg1260*",
"transcript": "NM_001406524.1",
"protein_id": "NP_001393453.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3778,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3891,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3772C>T",
"hgvs_p": "p.Arg1258*",
"transcript": "NM_001406523.1",
"protein_id": "NP_001393452.1",
"transcript_support_level": null,
"aa_start": 1258,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3772,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 3885,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3760C>T",
"hgvs_p": "p.Arg1254*",
"transcript": "NM_001406525.1",
"protein_id": "NP_001393454.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3760,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3873,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3751C>T",
"hgvs_p": "p.Arg1251*",
"transcript": "NM_001406526.1",
"protein_id": "NP_001393455.1",
"transcript_support_level": null,
"aa_start": 1251,
"aa_end": null,
"aa_length": 1397,
"cds_start": 3751,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 3864,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3721C>T",
"hgvs_p": "p.Arg1241*",
"transcript": "NM_001330578.2",
"protein_id": "NP_001317507.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3721,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3721C>T",
"hgvs_p": "p.Arg1241*",
"transcript": "NM_001406527.1",
"protein_id": "NP_001393456.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3721,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3888,
"cdna_end": null,
"cdna_length": 6418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3721C>T",
"hgvs_p": "p.Arg1241*",
"transcript": "NM_001406528.1",
"protein_id": "NP_001393457.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3721,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 4072,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3721C>T",
"hgvs_p": "p.Arg1241*",
"transcript": "ENST00000673772.1",
"protein_id": "ENSP00000501168.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3721,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3795,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3715C>T",
"hgvs_p": "p.Arg1239*",
"transcript": "NM_001406530.1",
"protein_id": "NP_001393459.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3715,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3828,
"cdna_end": null,
"cdna_length": 6358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3703C>T",
"hgvs_p": "p.Arg1235*",
"transcript": "NM_001330579.2",
"protein_id": "NP_001317508.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3703,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3703C>T",
"hgvs_p": "p.Arg1235*",
"transcript": "NM_001406531.1",
"protein_id": "NP_001393460.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3703,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3870,
"cdna_end": null,
"cdna_length": 6400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3703C>T",
"hgvs_p": "p.Arg1235*",
"transcript": "NM_001406532.1",
"protein_id": "NP_001393461.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3703,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 4293,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3667C>T",
"hgvs_p": "p.Arg1223*",
"transcript": "NM_001406534.1",
"protein_id": "NP_001393463.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3667,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3780,
"cdna_end": null,
"cdna_length": 6310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3625C>T",
"hgvs_p": "p.Arg1209*",
"transcript": "NM_001406535.1",
"protein_id": "NP_001393464.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1355,
"cds_start": 3625,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 3738,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3625C>T",
"hgvs_p": "p.Arg1209*",
"transcript": "NM_001406536.1",
"protein_id": "NP_001393465.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1355,
"cds_start": 3625,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 3738,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3622C>T",
"hgvs_p": "p.Arg1208*",
"transcript": "NM_001243182.2",
"protein_id": "NP_001230111.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3622,
"cds_end": null,
"cds_length": 4065,
"cdna_start": 3735,
"cdna_end": null,
"cdna_length": 6265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3616C>T",
"hgvs_p": "p.Arg1206*",
"transcript": "NM_001406537.1",
"protein_id": "NP_001393466.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3616,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3783,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3577C>T",
"hgvs_p": "p.Arg1193*",
"transcript": "NM_001406538.1",
"protein_id": "NP_001393467.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1339,
"cds_start": 3577,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 3690,
"cdna_end": null,
"cdna_length": 6220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Arg1176*",
"transcript": "NM_001406539.1",
"protein_id": "NP_001393468.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1322,
"cds_start": 3526,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 3768,
"cdna_end": null,
"cdna_length": 6298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3508C>T",
"hgvs_p": "p.Arg1170*",
"transcript": "NM_001406540.1",
"protein_id": "NP_001393469.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3508,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 3621,
"cdna_end": null,
"cdna_length": 6151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3469C>T",
"hgvs_p": "p.Arg1157*",
"transcript": "NM_001406541.1",
"protein_id": "NP_001393470.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3636,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3469C>T",
"hgvs_p": "p.Arg1157*",
"transcript": "NM_001406542.1",
"protein_id": "NP_001393471.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3582,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3469C>T",
"hgvs_p": "p.Arg1157*",
"transcript": "ENST00000713660.1",
"protein_id": "ENSP00000518962.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3523,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3463C>T",
"hgvs_p": "p.Arg1155*",
"transcript": "NM_001406543.1",
"protein_id": "NP_001393472.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3463,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 3759,
"cdna_end": null,
"cdna_length": 6289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3373C>T",
"hgvs_p": "p.Arg1125*",
"transcript": "NM_001406544.1",
"protein_id": "NP_001393473.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3373,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 3486,
"cdna_end": null,
"cdna_length": 6016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3334C>T",
"hgvs_p": "p.Arg1112*",
"transcript": "NM_001005918.3",
"protein_id": "NP_001005918.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 5977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3334C>T",
"hgvs_p": "p.Arg1112*",
"transcript": "ENST00000674147.2",
"protein_id": "ENSP00000500964.2",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3307C>T",
"hgvs_p": "p.Arg1103*",
"transcript": "NM_001406545.1",
"protein_id": "NP_001393474.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3307,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3420,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3307C>T",
"hgvs_p": "p.Arg1103*",
"transcript": "ENST00000713659.1",
"protein_id": "ENSP00000518961.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3307,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 4085,
"cdna_end": null,
"cdna_length": 8132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3274C>T",
"hgvs_p": "p.Arg1092*",
"transcript": "NM_001406546.1",
"protein_id": "NP_001393475.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3274,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 3387,
"cdna_end": null,
"cdna_length": 5917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3112C>T",
"hgvs_p": "p.Arg1038*",
"transcript": "NM_001406547.1",
"protein_id": "NP_001393476.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 3225,
"cdna_end": null,
"cdna_length": 5755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2665C>T",
"hgvs_p": "p.Arg889*",
"transcript": "NM_001406548.1",
"protein_id": "NP_001393477.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2665,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1605C>T",
"hgvs_p": null,
"transcript": "ENST00000634296.2",
"protein_id": "ENSP00000489512.2",
"transcript_support_level": 5,
"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": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.1278C>T",
"hgvs_p": null,
"transcript": "ENST00000673696.1",
"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": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*2699C>T",
"hgvs_p": null,
"transcript": "ENST00000673864.2",
"protein_id": "ENSP00000501045.2",
"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": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.4094C>T",
"hgvs_p": null,
"transcript": "ENST00000673867.1",
"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": 6613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.821C>T",
"hgvs_p": null,
"transcript": "ENST00000673923.1",
"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": 3336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1605C>T",
"hgvs_p": null,
"transcript": "ENST00000634296.2",
"protein_id": "ENSP00000489512.2",
"transcript_support_level": 5,
"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": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*2699C>T",
"hgvs_p": null,
"transcript": "ENST00000673864.2",
"protein_id": "ENSP00000501045.2",
"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": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"dbsnp": "rs193922109",
"frequency_reference_population": 0.00014002339,
"hom_count_reference_population": 1,
"allele_count_reference_population": 226,
"gnomad_exomes_af": 0.000146386,
"gnomad_genomes_af": 0.000078882,
"gnomad_exomes_ac": 214,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2800000011920929,
"computational_prediction_selected": "Pathogenic",
"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": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.762,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000242839.10",
"gene_symbol": "ATP7B",
"hgnc_id": 870,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3955C>T",
"hgvs_p": "p.Arg1319*"
}
],
"clinvar_disease": "ATP7B-related disorder,Inborn genetic diseases,Wilson disease,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:19",
"phenotype_combined": "Wilson disease|not provided|Inborn genetic diseases|ATP7B-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}