← 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: 13-51939062-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=51939062&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 51939062,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000053.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3688A>G",
"hgvs_p": "p.Ile1230Val",
"transcript": "NM_000053.4",
"protein_id": "NP_000044.2",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3688,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": "ENST00000242839.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000053.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3688A>G",
"hgvs_p": "p.Ile1230Val",
"transcript": "ENST00000242839.10",
"protein_id": "ENSP00000242839.5",
"transcript_support_level": 1,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3688,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": "NM_000053.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242839.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3544A>G",
"hgvs_p": "p.Ile1182Val",
"transcript": "ENST00000634844.1",
"protein_id": "ENSP00000489398.1",
"transcript_support_level": 1,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3618,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634844.1"
},
{
"aa_ref": "I",
"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.3493A>G",
"hgvs_p": "p.Ile1165Val",
"transcript": "ENST00000418097.7",
"protein_id": "ENSP00000393343.2",
"transcript_support_level": 1,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3493,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3567,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418097.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3436A>G",
"hgvs_p": "p.Ile1146Val",
"transcript": "ENST00000448424.7",
"protein_id": "ENSP00000416738.3",
"transcript_support_level": 1,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3436,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3689,
"cdna_end": null,
"cdna_length": 6451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448424.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3355A>G",
"hgvs_p": "p.Ile1119Val",
"transcript": "ENST00000400366.6",
"protein_id": "ENSP00000383217.3",
"transcript_support_level": 1,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3355,
"cds_end": null,
"cds_length": 4065,
"cdna_start": 3355,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400366.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2398A>G",
"hgvs_p": "p.Ile800Val",
"transcript": "ENST00000400370.8",
"protein_id": "ENSP00000383221.3",
"transcript_support_level": 1,
"aa_start": 800,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2398,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400370.8"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*789A>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000634308.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.4432A>G",
"hgvs_p": null,
"transcript": "ENST00000634620.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000634620.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.3033A>G",
"hgvs_p": null,
"transcript": "ENST00000634810.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5825,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000634810.1"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*789A>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000634308.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3688A>G",
"hgvs_p": "p.Ile1230Val",
"transcript": "NM_001406511.1",
"protein_id": "NP_001393440.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3688,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3855,
"cdna_end": null,
"cdna_length": 6652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406511.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3688A>G",
"hgvs_p": "p.Ile1230Val",
"transcript": "NM_001406512.1",
"protein_id": "NP_001393441.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3688,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4094,
"cdna_end": null,
"cdna_length": 6891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406512.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3688A>G",
"hgvs_p": "p.Ile1230Val",
"transcript": "ENST00000873567.1",
"protein_id": "ENSP00000543626.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3688,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3889,
"cdna_end": null,
"cdna_length": 6686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873567.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3688A>G",
"hgvs_p": "p.Ile1230Val",
"transcript": "ENST00000911501.1",
"protein_id": "ENSP00000581560.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3688,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4170,
"cdna_end": null,
"cdna_length": 6961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911501.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3682A>G",
"hgvs_p": "p.Ile1228Val",
"transcript": "NM_001406513.1",
"protein_id": "NP_001393442.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3682,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3849,
"cdna_end": null,
"cdna_length": 6646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406513.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3682A>G",
"hgvs_p": "p.Ile1228Val",
"transcript": "ENST00000873569.1",
"protein_id": "ENSP00000543628.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3682,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 4474,
"cdna_end": null,
"cdna_length": 7271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873569.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3682A>G",
"hgvs_p": "p.Ile1228Val",
"transcript": "ENST00000873570.1",
"protein_id": "ENSP00000543629.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3682,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3857,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873570.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3655A>G",
"hgvs_p": "p.Ile1219Val",
"transcript": "NM_001406514.1",
"protein_id": "NP_001393443.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3655,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 3768,
"cdna_end": null,
"cdna_length": 6565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406514.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3634A>G",
"hgvs_p": "p.Ile1212Val",
"transcript": "NM_001406515.1",
"protein_id": "NP_001393444.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3634,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 3747,
"cdna_end": null,
"cdna_length": 6544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406515.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3634A>G",
"hgvs_p": "p.Ile1212Val",
"transcript": "NM_001406516.1",
"protein_id": "NP_001393445.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3634,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406516.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3592A>G",
"hgvs_p": "p.Ile1198Val",
"transcript": "NM_001406517.1",
"protein_id": "NP_001393446.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3592,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 3705,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406517.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3592A>G",
"hgvs_p": "p.Ile1198Val",
"transcript": "NM_001406518.1",
"protein_id": "NP_001393447.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3592,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 3892,
"cdna_end": null,
"cdna_length": 6689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406518.1"
},
{
"aa_ref": "I",
"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.3553A>G",
"hgvs_p": "p.Ile1185Val",
"transcript": "NM_001406519.1",
"protein_id": "NP_001393448.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1420,
"cds_start": 3553,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 3666,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406519.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3544A>G",
"hgvs_p": "p.Ile1182Val",
"transcript": "NM_001406520.1",
"protein_id": "NP_001393449.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3657,
"cdna_end": null,
"cdna_length": 6454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406520.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3544A>G",
"hgvs_p": "p.Ile1182Val",
"transcript": "NM_001406521.1",
"protein_id": "NP_001393450.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3711,
"cdna_end": null,
"cdna_length": 6508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406521.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3544A>G",
"hgvs_p": "p.Ile1182Val",
"transcript": "NM_001406522.1",
"protein_id": "NP_001393451.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3950,
"cdna_end": null,
"cdna_length": 6747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406522.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3544A>G",
"hgvs_p": "p.Ile1182Val",
"transcript": "ENST00000873568.1",
"protein_id": "ENSP00000543627.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3743,
"cdna_end": null,
"cdna_length": 6540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873568.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3511A>G",
"hgvs_p": "p.Ile1171Val",
"transcript": "NM_001406524.1",
"protein_id": "NP_001393453.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3511,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3624,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406524.1"
},
{
"aa_ref": "I",
"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.3505A>G",
"hgvs_p": "p.Ile1169Val",
"transcript": "NM_001406523.1",
"protein_id": "NP_001393452.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3505,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 3618,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406523.1"
},
{
"aa_ref": "I",
"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.3493A>G",
"hgvs_p": "p.Ile1165Val",
"transcript": "NM_001406525.1",
"protein_id": "NP_001393454.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3493,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3606,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406525.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3688A>G",
"hgvs_p": "p.Ile1230Val",
"transcript": "NM_001406526.1",
"protein_id": "NP_001393455.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1397,
"cds_start": 3688,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406526.1"
},
{
"aa_ref": "I",
"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.3454A>G",
"hgvs_p": "p.Ile1152Val",
"transcript": "NM_001330578.2",
"protein_id": "NP_001317507.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3454,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3567,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330578.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3454A>G",
"hgvs_p": "p.Ile1152Val",
"transcript": "NM_001406527.1",
"protein_id": "NP_001393456.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3454,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3621,
"cdna_end": null,
"cdna_length": 6418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406527.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3454A>G",
"hgvs_p": "p.Ile1152Val",
"transcript": "NM_001406528.1",
"protein_id": "NP_001393457.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3454,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3805,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406528.1"
},
{
"aa_ref": "I",
"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.3454A>G",
"hgvs_p": "p.Ile1152Val",
"transcript": "ENST00000673772.1",
"protein_id": "ENSP00000501168.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3454,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3528,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673772.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3448A>G",
"hgvs_p": "p.Ile1150Val",
"transcript": "NM_001406530.1",
"protein_id": "NP_001393459.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3448,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3561,
"cdna_end": null,
"cdna_length": 6358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406530.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3436A>G",
"hgvs_p": "p.Ile1146Val",
"transcript": "NM_001330579.2",
"protein_id": "NP_001317508.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3436,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3549,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330579.2"
},
{
"aa_ref": "I",
"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.3436A>G",
"hgvs_p": "p.Ile1146Val",
"transcript": "NM_001406531.1",
"protein_id": "NP_001393460.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3436,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3603,
"cdna_end": null,
"cdna_length": 6400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406531.1"
},
{
"aa_ref": "I",
"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.3436A>G",
"hgvs_p": "p.Ile1146Val",
"transcript": "NM_001406532.1",
"protein_id": "NP_001393461.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3436,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 4026,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406532.1"
},
{
"aa_ref": "I",
"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.3400A>G",
"hgvs_p": "p.Ile1134Val",
"transcript": "NM_001406534.1",
"protein_id": "NP_001393463.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3400,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3513,
"cdna_end": null,
"cdna_length": 6310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406534.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3358A>G",
"hgvs_p": "p.Ile1120Val",
"transcript": "NM_001406535.1",
"protein_id": "NP_001393464.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1355,
"cds_start": 3358,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 3471,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406535.1"
},
{
"aa_ref": "I",
"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.3358A>G",
"hgvs_p": "p.Ile1120Val",
"transcript": "NM_001406536.1",
"protein_id": "NP_001393465.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1355,
"cds_start": 3358,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 3471,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406536.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3355A>G",
"hgvs_p": "p.Ile1119Val",
"transcript": "NM_001243182.2",
"protein_id": "NP_001230111.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3355,
"cds_end": null,
"cds_length": 4065,
"cdna_start": 3468,
"cdna_end": null,
"cdna_length": 6265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243182.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3349A>G",
"hgvs_p": "p.Ile1117Val",
"transcript": "NM_001406537.1",
"protein_id": "NP_001393466.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3349,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3516,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406537.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3310A>G",
"hgvs_p": "p.Ile1104Val",
"transcript": "NM_001406538.1",
"protein_id": "NP_001393467.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1339,
"cds_start": 3310,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 3423,
"cdna_end": null,
"cdna_length": 6220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406538.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3259A>G",
"hgvs_p": "p.Ile1087Val",
"transcript": "NM_001406539.1",
"protein_id": "NP_001393468.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1322,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 3501,
"cdna_end": null,
"cdna_length": 6298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406539.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3241A>G",
"hgvs_p": "p.Ile1081Val",
"transcript": "NM_001406540.1",
"protein_id": "NP_001393469.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3241,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 3354,
"cdna_end": null,
"cdna_length": 6151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406540.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3202A>G",
"hgvs_p": "p.Ile1068Val",
"transcript": "NM_001406541.1",
"protein_id": "NP_001393470.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3202,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3369,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406541.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3202A>G",
"hgvs_p": "p.Ile1068Val",
"transcript": "NM_001406542.1",
"protein_id": "NP_001393471.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3202,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3315,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406542.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3202A>G",
"hgvs_p": "p.Ile1068Val",
"transcript": "ENST00000713660.1",
"protein_id": "ENSP00000518962.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3202,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3256,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713660.1"
},
{
"aa_ref": "I",
"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.3196A>G",
"hgvs_p": "p.Ile1066Val",
"transcript": "NM_001406543.1",
"protein_id": "NP_001393472.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 6289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406543.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3106A>G",
"hgvs_p": "p.Ile1036Val",
"transcript": "NM_001406544.1",
"protein_id": "NP_001393473.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3106,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 3219,
"cdna_end": null,
"cdna_length": 6016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406544.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3067A>G",
"hgvs_p": "p.Ile1023Val",
"transcript": "NM_001005918.3",
"protein_id": "NP_001005918.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 5977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005918.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3067A>G",
"hgvs_p": "p.Ile1023Val",
"transcript": "ENST00000674147.2",
"protein_id": "ENSP00000500964.2",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674147.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3040A>G",
"hgvs_p": "p.Ile1014Val",
"transcript": "NM_001406545.1",
"protein_id": "NP_001393474.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3153,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406545.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3040A>G",
"hgvs_p": "p.Ile1014Val",
"transcript": "ENST00000713659.1",
"protein_id": "ENSP00000518961.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3818,
"cdna_end": null,
"cdna_length": 8132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713659.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3007A>G",
"hgvs_p": "p.Ile1003Val",
"transcript": "NM_001406546.1",
"protein_id": "NP_001393475.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 3120,
"cdna_end": null,
"cdna_length": 5917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406546.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2845A>G",
"hgvs_p": "p.Ile949Val",
"transcript": "NM_001406547.1",
"protein_id": "NP_001393476.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1184,
"cds_start": 2845,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 2958,
"cdna_end": null,
"cdna_length": 5755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406547.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2398A>G",
"hgvs_p": "p.Ile800Val",
"transcript": "NM_001406548.1",
"protein_id": "NP_001393477.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2398,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406548.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1338A>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000634296.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.929A>G",
"hgvs_p": null,
"transcript": "ENST00000673696.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000673696.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*2432A>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673864.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.3827A>G",
"hgvs_p": null,
"transcript": "ENST00000673867.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6613,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000673867.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.554A>G",
"hgvs_p": null,
"transcript": "ENST00000673923.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3336,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000673923.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1338A>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000634296.2"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*2432A>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673864.2"
}
],
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"dbsnp": "rs200911496",
"frequency_reference_population": 0.00065726874,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1061,
"gnomad_exomes_af": 0.000675153,
"gnomad_genomes_af": 0.000485673,
"gnomad_exomes_ac": 987,
"gnomad_genomes_ac": 74,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5384665727615356,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.801,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1084,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.969,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS3,PM1,PM5,PP2,PP5,BS2_Supporting",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 1,
"pathogenic_score": 10,
"criteria": [
"PS3",
"PM1",
"PM5",
"PP2",
"PP5",
"BS2_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000053.4",
"gene_symbol": "ATP7B",
"hgnc_id": 870,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3688A>G",
"hgvs_p": "p.Ile1230Val"
}
],
"clinvar_disease": "ATP7B-related disorder,Inborn genetic diseases,Wilson disease,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:6 US:12",
"phenotype_combined": "Wilson disease|not specified|not provided|Inborn genetic diseases|ATP7B-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}