← 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: 13-51941089-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=51941089&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 51941089,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000242839.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3548C>T",
"hgvs_p": "p.Ala1183Val",
"transcript": "NM_000053.4",
"protein_id": "NP_000044.2",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3548,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3661,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": "ENST00000242839.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3548C>T",
"hgvs_p": "p.Ala1183Val",
"transcript": "ENST00000242839.10",
"protein_id": "ENSP00000242839.5",
"transcript_support_level": 1,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3548,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3661,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": "NM_000053.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3404C>T",
"hgvs_p": "p.Ala1135Val",
"transcript": "ENST00000634844.1",
"protein_id": "ENSP00000489398.1",
"transcript_support_level": 1,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3404,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3478,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3353C>T",
"hgvs_p": "p.Ala1118Val",
"transcript": "ENST00000418097.7",
"protein_id": "ENSP00000393343.2",
"transcript_support_level": 1,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3353,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3427,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3296C>T",
"hgvs_p": "p.Ala1099Val",
"transcript": "ENST00000448424.7",
"protein_id": "ENSP00000416738.3",
"transcript_support_level": 1,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3296,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3549,
"cdna_end": null,
"cdna_length": 6451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3215C>T",
"hgvs_p": "p.Ala1072Val",
"transcript": "ENST00000400366.6",
"protein_id": "ENSP00000383217.3",
"transcript_support_level": 1,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3215,
"cds_end": null,
"cds_length": 4065,
"cdna_start": 3215,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2258C>T",
"hgvs_p": "p.Ala753Val",
"transcript": "ENST00000400370.8",
"protein_id": "ENSP00000383221.3",
"transcript_support_level": 1,
"aa_start": 753,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2258,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2332,
"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": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*649C>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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.4292C>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": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.2893C>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": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*649C>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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3548C>T",
"hgvs_p": "p.Ala1183Val",
"transcript": "NM_001406511.1",
"protein_id": "NP_001393440.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3548,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3715,
"cdna_end": null,
"cdna_length": 6652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3548C>T",
"hgvs_p": "p.Ala1183Val",
"transcript": "NM_001406512.1",
"protein_id": "NP_001393441.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3548,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3954,
"cdna_end": null,
"cdna_length": 6891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3542C>T",
"hgvs_p": "p.Ala1181Val",
"transcript": "NM_001406513.1",
"protein_id": "NP_001393442.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3542,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3709,
"cdna_end": null,
"cdna_length": 6646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3515C>T",
"hgvs_p": "p.Ala1172Val",
"transcript": "NM_001406514.1",
"protein_id": "NP_001393443.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3515,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 3628,
"cdna_end": null,
"cdna_length": 6565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3494C>T",
"hgvs_p": "p.Ala1165Val",
"transcript": "NM_001406515.1",
"protein_id": "NP_001393444.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3494,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 3607,
"cdna_end": null,
"cdna_length": 6544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3494C>T",
"hgvs_p": "p.Ala1165Val",
"transcript": "NM_001406516.1",
"protein_id": "NP_001393445.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3494,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 3900,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3452C>T",
"hgvs_p": "p.Ala1151Val",
"transcript": "NM_001406517.1",
"protein_id": "NP_001393446.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3452,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 3565,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3452C>T",
"hgvs_p": "p.Ala1151Val",
"transcript": "NM_001406518.1",
"protein_id": "NP_001393447.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3452,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 3752,
"cdna_end": null,
"cdna_length": 6689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3413C>T",
"hgvs_p": "p.Ala1138Val",
"transcript": "NM_001406519.1",
"protein_id": "NP_001393448.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1420,
"cds_start": 3413,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 3526,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3404C>T",
"hgvs_p": "p.Ala1135Val",
"transcript": "NM_001406520.1",
"protein_id": "NP_001393449.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3404,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 6454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3404C>T",
"hgvs_p": "p.Ala1135Val",
"transcript": "NM_001406521.1",
"protein_id": "NP_001393450.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3404,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3571,
"cdna_end": null,
"cdna_length": 6508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3404C>T",
"hgvs_p": "p.Ala1135Val",
"transcript": "NM_001406522.1",
"protein_id": "NP_001393451.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3404,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3810,
"cdna_end": null,
"cdna_length": 6747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3371C>T",
"hgvs_p": "p.Ala1124Val",
"transcript": "NM_001406524.1",
"protein_id": "NP_001393453.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3371,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3484,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3365C>T",
"hgvs_p": "p.Ala1122Val",
"transcript": "NM_001406523.1",
"protein_id": "NP_001393452.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3365,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 3478,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3353C>T",
"hgvs_p": "p.Ala1118Val",
"transcript": "NM_001406525.1",
"protein_id": "NP_001393454.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3353,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3466,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3548C>T",
"hgvs_p": "p.Ala1183Val",
"transcript": "NM_001406526.1",
"protein_id": "NP_001393455.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1397,
"cds_start": 3548,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 3661,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3314C>T",
"hgvs_p": "p.Ala1105Val",
"transcript": "NM_001330578.2",
"protein_id": "NP_001317507.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3314,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3427,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3314C>T",
"hgvs_p": "p.Ala1105Val",
"transcript": "NM_001406527.1",
"protein_id": "NP_001393456.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3314,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3481,
"cdna_end": null,
"cdna_length": 6418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3314C>T",
"hgvs_p": "p.Ala1105Val",
"transcript": "NM_001406528.1",
"protein_id": "NP_001393457.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3314,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3665,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3314C>T",
"hgvs_p": "p.Ala1105Val",
"transcript": "ENST00000673772.1",
"protein_id": "ENSP00000501168.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3314,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3388,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3308C>T",
"hgvs_p": "p.Ala1103Val",
"transcript": "NM_001406530.1",
"protein_id": "NP_001393459.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3308,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3421,
"cdna_end": null,
"cdna_length": 6358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3296C>T",
"hgvs_p": "p.Ala1099Val",
"transcript": "NM_001330579.2",
"protein_id": "NP_001317508.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3296,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3409,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3296C>T",
"hgvs_p": "p.Ala1099Val",
"transcript": "NM_001406531.1",
"protein_id": "NP_001393460.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3296,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3463,
"cdna_end": null,
"cdna_length": 6400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3296C>T",
"hgvs_p": "p.Ala1099Val",
"transcript": "NM_001406532.1",
"protein_id": "NP_001393461.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3296,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3886,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3260C>T",
"hgvs_p": "p.Ala1087Val",
"transcript": "NM_001406534.1",
"protein_id": "NP_001393463.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3260,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3373,
"cdna_end": null,
"cdna_length": 6310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3218C>T",
"hgvs_p": "p.Ala1073Val",
"transcript": "NM_001406535.1",
"protein_id": "NP_001393464.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1355,
"cds_start": 3218,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 3331,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3218C>T",
"hgvs_p": "p.Ala1073Val",
"transcript": "NM_001406536.1",
"protein_id": "NP_001393465.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1355,
"cds_start": 3218,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 3331,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3215C>T",
"hgvs_p": "p.Ala1072Val",
"transcript": "NM_001243182.2",
"protein_id": "NP_001230111.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3215,
"cds_end": null,
"cds_length": 4065,
"cdna_start": 3328,
"cdna_end": null,
"cdna_length": 6265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3209C>T",
"hgvs_p": "p.Ala1070Val",
"transcript": "NM_001406537.1",
"protein_id": "NP_001393466.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3209,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3376,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3119C>T",
"hgvs_p": "p.Ala1040Val",
"transcript": "NM_001406539.1",
"protein_id": "NP_001393468.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1322,
"cds_start": 3119,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 3361,
"cdna_end": null,
"cdna_length": 6298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3101C>T",
"hgvs_p": "p.Ala1034Val",
"transcript": "NM_001406540.1",
"protein_id": "NP_001393469.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3101,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 6151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3062C>T",
"hgvs_p": "p.Ala1021Val",
"transcript": "NM_001406541.1",
"protein_id": "NP_001393470.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3062,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3229,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3062C>T",
"hgvs_p": "p.Ala1021Val",
"transcript": "NM_001406542.1",
"protein_id": "NP_001393471.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3062,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3175,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3062C>T",
"hgvs_p": "p.Ala1021Val",
"transcript": "ENST00000713660.1",
"protein_id": "ENSP00000518962.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3062,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3116,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2966C>T",
"hgvs_p": "p.Ala989Val",
"transcript": "NM_001406544.1",
"protein_id": "NP_001393473.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1271,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 3079,
"cdna_end": null,
"cdna_length": 6016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2927C>T",
"hgvs_p": "p.Ala976Val",
"transcript": "NM_001005918.3",
"protein_id": "NP_001005918.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2927,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3040,
"cdna_end": null,
"cdna_length": 5977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2927C>T",
"hgvs_p": "p.Ala976Val",
"transcript": "ENST00000674147.2",
"protein_id": "ENSP00000500964.2",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2927,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3040,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2900C>T",
"hgvs_p": "p.Ala967Val",
"transcript": "NM_001406545.1",
"protein_id": "NP_001393474.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3013,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2900C>T",
"hgvs_p": "p.Ala967Val",
"transcript": "ENST00000713659.1",
"protein_id": "ENSP00000518961.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3678,
"cdna_end": null,
"cdna_length": 8132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2867C>T",
"hgvs_p": "p.Ala956Val",
"transcript": "NM_001406546.1",
"protein_id": "NP_001393475.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1238,
"cds_start": 2867,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 2980,
"cdna_end": null,
"cdna_length": 5917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2705C>T",
"hgvs_p": "p.Ala902Val",
"transcript": "NM_001406547.1",
"protein_id": "NP_001393476.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1184,
"cds_start": 2705,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 5755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2258C>T",
"hgvs_p": "p.Ala753Val",
"transcript": "NM_001406548.1",
"protein_id": "NP_001393477.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2258,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2371,
"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": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1198C>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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*2292C>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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.3687C>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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.3911C>T",
"hgvs_p": null,
"transcript": "ENST00000674126.1",
"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": 4954,
"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": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1198C>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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*2292C>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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3178+1297C>T",
"hgvs_p": null,
"transcript": "NM_001406538.1",
"protein_id": "NP_001393467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1339,
"cds_start": -4,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3064+1297C>T",
"hgvs_p": null,
"transcript": "NM_001406543.1",
"protein_id": "NP_001393472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"cds_start": -4,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"dbsnp": "rs587783315",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9450891613960266,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.892,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5032,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.94,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000242839.10",
"gene_symbol": "ATP7B",
"hgnc_id": 870,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3548C>T",
"hgvs_p": "p.Ala1183Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}