← 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: 13-51944204-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=51944204&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 51944204,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000242839.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3147delC",
"hgvs_p": "p.Thr1050fs",
"transcript": "NM_000053.4",
"protein_id": "NP_000044.2",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3147,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3260,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": "ENST00000242839.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3147delC",
"hgvs_p": "p.Thr1050fs",
"transcript": "ENST00000242839.10",
"protein_id": "ENSP00000242839.5",
"transcript_support_level": 1,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3147,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3260,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": "NM_000053.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3003delC",
"hgvs_p": "p.Thr1002fs",
"transcript": "ENST00000634844.1",
"protein_id": "ENSP00000489398.1",
"transcript_support_level": 1,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3003,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2952delC",
"hgvs_p": "p.Thr985fs",
"transcript": "ENST00000418097.7",
"protein_id": "ENSP00000393343.2",
"transcript_support_level": 1,
"aa_start": 984,
"aa_end": null,
"aa_length": 1400,
"cds_start": 2952,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2895delC",
"hgvs_p": "p.Thr966fs",
"transcript": "ENST00000448424.7",
"protein_id": "ENSP00000416738.3",
"transcript_support_level": 1,
"aa_start": 965,
"aa_end": null,
"aa_length": 1381,
"cds_start": 2895,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3148,
"cdna_end": null,
"cdna_length": 6451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2814delC",
"hgvs_p": "p.Thr939fs",
"transcript": "ENST00000400366.6",
"protein_id": "ENSP00000383217.3",
"transcript_support_level": 1,
"aa_start": 938,
"aa_end": null,
"aa_length": 1354,
"cds_start": 2814,
"cds_end": null,
"cds_length": 4065,
"cdna_start": 2814,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.1857delC",
"hgvs_p": "p.Thr620fs",
"transcript": "ENST00000400370.8",
"protein_id": "ENSP00000383221.3",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1857,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*248delC",
"hgvs_p": null,
"transcript": "ENST00000634308.1",
"protein_id": "ENSP00000489234.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.3891delC",
"hgvs_p": null,
"transcript": "ENST00000634620.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.2492delC",
"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": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*248delC",
"hgvs_p": null,
"transcript": "ENST00000634308.1",
"protein_id": "ENSP00000489234.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3147delC",
"hgvs_p": "p.Thr1050fs",
"transcript": "NM_001406511.1",
"protein_id": "NP_001393440.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3147,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3314,
"cdna_end": null,
"cdna_length": 6652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3147delC",
"hgvs_p": "p.Thr1050fs",
"transcript": "NM_001406512.1",
"protein_id": "NP_001393441.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3147,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3553,
"cdna_end": null,
"cdna_length": 6891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3141delC",
"hgvs_p": "p.Thr1048fs",
"transcript": "NM_001406513.1",
"protein_id": "NP_001393442.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3141,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3308,
"cdna_end": null,
"cdna_length": 6646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3114delC",
"hgvs_p": "p.Thr1039fs",
"transcript": "NM_001406514.1",
"protein_id": "NP_001393443.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3114,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 3227,
"cdna_end": null,
"cdna_length": 6565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3093delC",
"hgvs_p": "p.Thr1032fs",
"transcript": "NM_001406515.1",
"protein_id": "NP_001393444.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3093,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 3206,
"cdna_end": null,
"cdna_length": 6544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3093delC",
"hgvs_p": "p.Thr1032fs",
"transcript": "NM_001406516.1",
"protein_id": "NP_001393445.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3093,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 3499,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3051delC",
"hgvs_p": "p.Thr1018fs",
"transcript": "NM_001406517.1",
"protein_id": "NP_001393446.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3051,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 3164,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3051delC",
"hgvs_p": "p.Thr1018fs",
"transcript": "NM_001406518.1",
"protein_id": "NP_001393447.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3051,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 3351,
"cdna_end": null,
"cdna_length": 6689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3012delC",
"hgvs_p": "p.Thr1005fs",
"transcript": "NM_001406519.1",
"protein_id": "NP_001393448.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1420,
"cds_start": 3012,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 3125,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3003delC",
"hgvs_p": "p.Thr1002fs",
"transcript": "NM_001406520.1",
"protein_id": "NP_001393449.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3003,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3116,
"cdna_end": null,
"cdna_length": 6454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3003delC",
"hgvs_p": "p.Thr1002fs",
"transcript": "NM_001406521.1",
"protein_id": "NP_001393450.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3003,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 6508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3003delC",
"hgvs_p": "p.Thr1002fs",
"transcript": "NM_001406522.1",
"protein_id": "NP_001393451.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3003,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3409,
"cdna_end": null,
"cdna_length": 6747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2970delC",
"hgvs_p": "p.Thr991fs",
"transcript": "NM_001406524.1",
"protein_id": "NP_001393453.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1406,
"cds_start": 2970,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3083,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2952delC",
"hgvs_p": "p.Thr985fs",
"transcript": "NM_001406525.1",
"protein_id": "NP_001393454.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1400,
"cds_start": 2952,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3065,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3147delC",
"hgvs_p": "p.Thr1050fs",
"transcript": "NM_001406526.1",
"protein_id": "NP_001393455.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1397,
"cds_start": 3147,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 3260,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2913delC",
"hgvs_p": "p.Thr972fs",
"transcript": "NM_001330578.2",
"protein_id": "NP_001317507.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1387,
"cds_start": 2913,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2913delC",
"hgvs_p": "p.Thr972fs",
"transcript": "NM_001406527.1",
"protein_id": "NP_001393456.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1387,
"cds_start": 2913,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3080,
"cdna_end": null,
"cdna_length": 6418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2913delC",
"hgvs_p": "p.Thr972fs",
"transcript": "NM_001406528.1",
"protein_id": "NP_001393457.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1387,
"cds_start": 2913,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2913delC",
"hgvs_p": "p.Thr972fs",
"transcript": "ENST00000673772.1",
"protein_id": "ENSP00000501168.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1387,
"cds_start": 2913,
"cds_end": null,
"cds_length": 4164,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2907delC",
"hgvs_p": "p.Thr970fs",
"transcript": "NM_001406530.1",
"protein_id": "NP_001393459.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1385,
"cds_start": 2907,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3020,
"cdna_end": null,
"cdna_length": 6358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2895delC",
"hgvs_p": "p.Thr966fs",
"transcript": "NM_001330579.2",
"protein_id": "NP_001317508.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1381,
"cds_start": 2895,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3008,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2895delC",
"hgvs_p": "p.Thr966fs",
"transcript": "NM_001406531.1",
"protein_id": "NP_001393460.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1381,
"cds_start": 2895,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 6400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2895delC",
"hgvs_p": "p.Thr966fs",
"transcript": "NM_001406532.1",
"protein_id": "NP_001393461.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1381,
"cds_start": 2895,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 3485,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2859delC",
"hgvs_p": "p.Thr954fs",
"transcript": "NM_001406534.1",
"protein_id": "NP_001393463.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1369,
"cds_start": 2859,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 2972,
"cdna_end": null,
"cdna_length": 6310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2817delC",
"hgvs_p": "p.Thr940fs",
"transcript": "NM_001406535.1",
"protein_id": "NP_001393464.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1355,
"cds_start": 2817,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 2930,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2817delC",
"hgvs_p": "p.Thr940fs",
"transcript": "NM_001406536.1",
"protein_id": "NP_001393465.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1355,
"cds_start": 2817,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 2930,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2814delC",
"hgvs_p": "p.Thr939fs",
"transcript": "NM_001243182.2",
"protein_id": "NP_001230111.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1354,
"cds_start": 2814,
"cds_end": null,
"cds_length": 4065,
"cdna_start": 2927,
"cdna_end": null,
"cdna_length": 6265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2808delC",
"hgvs_p": "p.Thr937fs",
"transcript": "NM_001406537.1",
"protein_id": "NP_001393466.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2808,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 2975,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2913delC",
"hgvs_p": "p.Thr972fs",
"transcript": "NM_001406538.1",
"protein_id": "NP_001393467.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1339,
"cds_start": 2913,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 6220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2718delC",
"hgvs_p": "p.Thr907fs",
"transcript": "NM_001406539.1",
"protein_id": "NP_001393468.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1322,
"cds_start": 2718,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 2960,
"cdna_end": null,
"cdna_length": 6298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2700delC",
"hgvs_p": "p.Thr901fs",
"transcript": "NM_001406540.1",
"protein_id": "NP_001393469.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1316,
"cds_start": 2700,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 2813,
"cdna_end": null,
"cdna_length": 6151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2661delC",
"hgvs_p": "p.Thr888fs",
"transcript": "NM_001406541.1",
"protein_id": "NP_001393470.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2661,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2661delC",
"hgvs_p": "p.Thr888fs",
"transcript": "NM_001406542.1",
"protein_id": "NP_001393471.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2661,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2661delC",
"hgvs_p": "p.Thr888fs",
"transcript": "ENST00000713660.1",
"protein_id": "ENSP00000518962.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2661,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2799delC",
"hgvs_p": "p.Thr934fs",
"transcript": "NM_001406543.1",
"protein_id": "NP_001393472.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1301,
"cds_start": 2799,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 3095,
"cdna_end": null,
"cdna_length": 6289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2565delC",
"hgvs_p": "p.Thr856fs",
"transcript": "NM_001406544.1",
"protein_id": "NP_001393473.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1271,
"cds_start": 2565,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 2678,
"cdna_end": null,
"cdna_length": 6016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2526delC",
"hgvs_p": "p.Thr843fs",
"transcript": "NM_001005918.3",
"protein_id": "NP_001005918.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 2639,
"cdna_end": null,
"cdna_length": 5977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2526delC",
"hgvs_p": "p.Thr843fs",
"transcript": "ENST00000674147.2",
"protein_id": "ENSP00000500964.2",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 2639,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2499delC",
"hgvs_p": "p.Thr834fs",
"transcript": "NM_001406545.1",
"protein_id": "NP_001393474.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2499,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2612,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2499delC",
"hgvs_p": "p.Thr834fs",
"transcript": "ENST00000713659.1",
"protein_id": "ENSP00000518961.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2499,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3277,
"cdna_end": null,
"cdna_length": 8132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2466delC",
"hgvs_p": "p.Thr823fs",
"transcript": "NM_001406546.1",
"protein_id": "NP_001393475.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1238,
"cds_start": 2466,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 5917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2304delC",
"hgvs_p": "p.Thr769fs",
"transcript": "NM_001406547.1",
"protein_id": "NP_001393476.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1184,
"cds_start": 2304,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 5755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.1857delC",
"hgvs_p": "p.Thr620fs",
"transcript": "NM_001406548.1",
"protein_id": "NP_001393477.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1857,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.367delC",
"hgvs_p": null,
"transcript": "ENST00000466629.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.493delC",
"hgvs_p": null,
"transcript": "ENST00000635406.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1891delC",
"hgvs_p": null,
"transcript": "ENST00000673864.2",
"protein_id": "ENSP00000501045.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.3286delC",
"hgvs_p": null,
"transcript": "ENST00000673867.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.3510delC",
"hgvs_p": null,
"transcript": "ENST00000674126.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1891delC",
"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": 13,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3061-1651delC",
"hgvs_p": null,
"transcript": "NM_001406523.1",
"protein_id": "NP_001393452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1404,
"cds_start": -4,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*894-1651delC",
"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
}
],
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"dbsnp": "rs762031690",
"frequency_reference_population": 0.000008892732,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000889273,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.164,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000242839.10",
"gene_symbol": "ATP7B",
"hgnc_id": 870,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3147delC",
"hgvs_p": "p.Thr1050fs"
}
],
"clinvar_disease": "Wilson disease,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9",
"phenotype_combined": "Wilson disease|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}