← 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: 13-51937679-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=51937679&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 51937679,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000242839.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3700G>T",
"hgvs_p": "p.Val1234Phe",
"transcript": "NM_000053.4",
"protein_id": "NP_000044.2",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3700,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": "ENST00000242839.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3700G>T",
"hgvs_p": "p.Val1234Phe",
"transcript": "ENST00000242839.10",
"protein_id": "ENSP00000242839.5",
"transcript_support_level": 1,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3700,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": "NM_000053.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3556G>T",
"hgvs_p": "p.Val1186Phe",
"transcript": "ENST00000634844.1",
"protein_id": "ENSP00000489398.1",
"transcript_support_level": 1,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3556,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3630,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3505G>T",
"hgvs_p": "p.Val1169Phe",
"transcript": "ENST00000418097.7",
"protein_id": "ENSP00000393343.2",
"transcript_support_level": 1,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3505,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3448G>T",
"hgvs_p": "p.Val1150Phe",
"transcript": "ENST00000448424.7",
"protein_id": "ENSP00000416738.3",
"transcript_support_level": 1,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3448,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3701,
"cdna_end": null,
"cdna_length": 6451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3367G>T",
"hgvs_p": "p.Val1123Phe",
"transcript": "ENST00000400366.6",
"protein_id": "ENSP00000383217.3",
"transcript_support_level": 1,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3367,
"cds_end": null,
"cds_length": 4065,
"cdna_start": 3367,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2410G>T",
"hgvs_p": "p.Val804Phe",
"transcript": "ENST00000400370.8",
"protein_id": "ENSP00000383221.3",
"transcript_support_level": 1,
"aa_start": 804,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2410,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2484,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*801G>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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.4444G>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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.3045G>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": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*801G>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": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3700G>T",
"hgvs_p": "p.Val1234Phe",
"transcript": "NM_001406511.1",
"protein_id": "NP_001393440.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3700,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3867,
"cdna_end": null,
"cdna_length": 6652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3700G>T",
"hgvs_p": "p.Val1234Phe",
"transcript": "NM_001406512.1",
"protein_id": "NP_001393441.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3700,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4106,
"cdna_end": null,
"cdna_length": 6891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3694G>T",
"hgvs_p": "p.Val1232Phe",
"transcript": "NM_001406513.1",
"protein_id": "NP_001393442.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3694,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3861,
"cdna_end": null,
"cdna_length": 6646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3667G>T",
"hgvs_p": "p.Val1223Phe",
"transcript": "NM_001406514.1",
"protein_id": "NP_001393443.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3667,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 3780,
"cdna_end": null,
"cdna_length": 6565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3646G>T",
"hgvs_p": "p.Val1216Phe",
"transcript": "NM_001406515.1",
"protein_id": "NP_001393444.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3646,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 3759,
"cdna_end": null,
"cdna_length": 6544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3646G>T",
"hgvs_p": "p.Val1216Phe",
"transcript": "NM_001406516.1",
"protein_id": "NP_001393445.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3646,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 4052,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3604G>T",
"hgvs_p": "p.Val1202Phe",
"transcript": "NM_001406517.1",
"protein_id": "NP_001393446.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3604,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 3717,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3604G>T",
"hgvs_p": "p.Val1202Phe",
"transcript": "NM_001406518.1",
"protein_id": "NP_001393447.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3604,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 3904,
"cdna_end": null,
"cdna_length": 6689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3565G>T",
"hgvs_p": "p.Val1189Phe",
"transcript": "NM_001406519.1",
"protein_id": "NP_001393448.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1420,
"cds_start": 3565,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 3678,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3556G>T",
"hgvs_p": "p.Val1186Phe",
"transcript": "NM_001406520.1",
"protein_id": "NP_001393449.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3556,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 6454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3556G>T",
"hgvs_p": "p.Val1186Phe",
"transcript": "NM_001406521.1",
"protein_id": "NP_001393450.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3556,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3723,
"cdna_end": null,
"cdna_length": 6508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3556G>T",
"hgvs_p": "p.Val1186Phe",
"transcript": "NM_001406522.1",
"protein_id": "NP_001393451.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3556,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3962,
"cdna_end": null,
"cdna_length": 6747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3523G>T",
"hgvs_p": "p.Val1175Phe",
"transcript": "NM_001406524.1",
"protein_id": "NP_001393453.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3523,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3636,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3517G>T",
"hgvs_p": "p.Val1173Phe",
"transcript": "NM_001406523.1",
"protein_id": "NP_001393452.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3517,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 3630,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3505G>T",
"hgvs_p": "p.Val1169Phe",
"transcript": "NM_001406525.1",
"protein_id": "NP_001393454.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3505,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3618,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3466G>T",
"hgvs_p": "p.Val1156Phe",
"transcript": "NM_001330578.2",
"protein_id": "NP_001317507.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3466,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3466G>T",
"hgvs_p": "p.Val1156Phe",
"transcript": "NM_001406527.1",
"protein_id": "NP_001393456.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3466,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3633,
"cdna_end": null,
"cdna_length": 6418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3466G>T",
"hgvs_p": "p.Val1156Phe",
"transcript": "NM_001406528.1",
"protein_id": "NP_001393457.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3466,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3817,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3466G>T",
"hgvs_p": "p.Val1156Phe",
"transcript": "ENST00000673772.1",
"protein_id": "ENSP00000501168.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3466,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3540,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3460G>T",
"hgvs_p": "p.Val1154Phe",
"transcript": "NM_001406530.1",
"protein_id": "NP_001393459.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3460,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3573,
"cdna_end": null,
"cdna_length": 6358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3448G>T",
"hgvs_p": "p.Val1150Phe",
"transcript": "NM_001330579.2",
"protein_id": "NP_001317508.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3448,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3561,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3448G>T",
"hgvs_p": "p.Val1150Phe",
"transcript": "NM_001406531.1",
"protein_id": "NP_001393460.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3448,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 6400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3448G>T",
"hgvs_p": "p.Val1150Phe",
"transcript": "NM_001406532.1",
"protein_id": "NP_001393461.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3448,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 4038,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3412G>T",
"hgvs_p": "p.Val1138Phe",
"transcript": "NM_001406534.1",
"protein_id": "NP_001393463.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3412,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3525,
"cdna_end": null,
"cdna_length": 6310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3370G>T",
"hgvs_p": "p.Val1124Phe",
"transcript": "NM_001406535.1",
"protein_id": "NP_001393464.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1355,
"cds_start": 3370,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3370G>T",
"hgvs_p": "p.Val1124Phe",
"transcript": "NM_001406536.1",
"protein_id": "NP_001393465.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1355,
"cds_start": 3370,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3367G>T",
"hgvs_p": "p.Val1123Phe",
"transcript": "NM_001243182.2",
"protein_id": "NP_001230111.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3367,
"cds_end": null,
"cds_length": 4065,
"cdna_start": 3480,
"cdna_end": null,
"cdna_length": 6265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3361G>T",
"hgvs_p": "p.Val1121Phe",
"transcript": "NM_001406537.1",
"protein_id": "NP_001393466.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3361,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3528,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3322G>T",
"hgvs_p": "p.Val1108Phe",
"transcript": "NM_001406538.1",
"protein_id": "NP_001393467.1",
"transcript_support_level": null,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1339,
"cds_start": 3322,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 3435,
"cdna_end": null,
"cdna_length": 6220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3271G>T",
"hgvs_p": "p.Val1091Phe",
"transcript": "NM_001406539.1",
"protein_id": "NP_001393468.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1322,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 3513,
"cdna_end": null,
"cdna_length": 6298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3253G>T",
"hgvs_p": "p.Val1085Phe",
"transcript": "NM_001406540.1",
"protein_id": "NP_001393469.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3253,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 3366,
"cdna_end": null,
"cdna_length": 6151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3214G>T",
"hgvs_p": "p.Val1072Phe",
"transcript": "NM_001406541.1",
"protein_id": "NP_001393470.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3381,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3214G>T",
"hgvs_p": "p.Val1072Phe",
"transcript": "NM_001406542.1",
"protein_id": "NP_001393471.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3327,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3214G>T",
"hgvs_p": "p.Val1072Phe",
"transcript": "ENST00000713660.1",
"protein_id": "ENSP00000518962.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3268,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3208G>T",
"hgvs_p": "p.Val1070Phe",
"transcript": "NM_001406543.1",
"protein_id": "NP_001393472.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 3504,
"cdna_end": null,
"cdna_length": 6289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3118G>T",
"hgvs_p": "p.Val1040Phe",
"transcript": "NM_001406544.1",
"protein_id": "NP_001393473.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3118,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 3231,
"cdna_end": null,
"cdna_length": 6016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3079G>T",
"hgvs_p": "p.Val1027Phe",
"transcript": "NM_001005918.3",
"protein_id": "NP_001005918.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3079,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3192,
"cdna_end": null,
"cdna_length": 5977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3079G>T",
"hgvs_p": "p.Val1027Phe",
"transcript": "ENST00000674147.2",
"protein_id": "ENSP00000500964.2",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3079,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3192,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3052G>T",
"hgvs_p": "p.Val1018Phe",
"transcript": "NM_001406545.1",
"protein_id": "NP_001393474.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3052,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3052G>T",
"hgvs_p": "p.Val1018Phe",
"transcript": "ENST00000713659.1",
"protein_id": "ENSP00000518961.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3052,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3830,
"cdna_end": null,
"cdna_length": 8132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3019G>T",
"hgvs_p": "p.Val1007Phe",
"transcript": "NM_001406546.1",
"protein_id": "NP_001393475.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3019,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 5917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Phe",
"transcript": "NM_001406547.1",
"protein_id": "NP_001393476.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1184,
"cds_start": 2857,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 5755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2410G>T",
"hgvs_p": "p.Val804Phe",
"transcript": "NM_001406548.1",
"protein_id": "NP_001393477.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2410,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2523,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1350G>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": [
"splice_region_variant",
"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.941G>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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*2444G>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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.3839G>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": [
"splice_region_variant",
"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.566G>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": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1350G>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": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*2444G>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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3700-286G>T",
"hgvs_p": null,
"transcript": "NM_001406526.1",
"protein_id": "NP_001393455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1397,
"cds_start": -4,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"dbsnp": "rs193922108",
"frequency_reference_population": 0.00000929337,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000957702,
"gnomad_genomes_af": 0.00000656935,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9468585252761841,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8840000033378601,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.944,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8829,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.858,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.998185048506845,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000242839.10",
"gene_symbol": "ATP7B",
"hgnc_id": 870,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3700G>T",
"hgvs_p": "p.Val1234Phe"
}
],
"clinvar_disease": "Wilson disease,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "not specified|not provided|Wilson disease",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}