← 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: 13-51935652-GCC-CGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=51935652&ref=GCC&alt=CGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Moderate",
"PM1",
"PM5",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP7B",
"hgnc_id": 870,
"hgvs_c": "c.4063_4065delGGCinsTCG",
"hgvs_p": "p.Gly1355Ser",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_000053.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1_Moderate,PM1,PM5,PP2",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "G",
"aa_start": 1355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6598,
"cdna_start": 4178,
"cds_end": null,
"cds_length": 4398,
"cds_start": 4063,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000053.4",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.4063_4065delGGCinsTCG",
"hgvs_p": "p.Gly1355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000242839.10",
"protein_coding": true,
"protein_id": "NP_000044.2",
"strand": false,
"transcript": "NM_000053.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "G",
"aa_start": 1355,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6598,
"cdna_start": 4178,
"cds_end": null,
"cds_length": 4398,
"cds_start": 4063,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000242839.10",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.4063_4065delGGCinsTCG",
"hgvs_p": "p.Gly1355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000053.4",
"protein_coding": true,
"protein_id": "ENSP00000242839.5",
"strand": false,
"transcript": "ENST00000242839.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "G",
"aa_start": 1307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4398,
"cdna_start": 3995,
"cds_end": null,
"cds_length": 4254,
"cds_start": 3919,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000634844.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3919_3921delGGCinsTCG",
"hgvs_p": "p.Gly1307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489398.1",
"strand": false,
"transcript": "ENST00000634844.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1400,
"aa_ref": "G",
"aa_start": 1290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4340,
"cdna_start": 3944,
"cds_end": null,
"cds_length": 4203,
"cds_start": 3868,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000418097.7",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3868_3870delGGCinsTCG",
"hgvs_p": "p.Gly1290Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393343.2",
"strand": false,
"transcript": "ENST00000418097.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1381,
"aa_ref": "G",
"aa_start": 1271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6451,
"cdna_start": 4066,
"cds_end": null,
"cds_length": 4146,
"cds_start": 3811,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000448424.7",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3811_3813delGGCinsTCG",
"hgvs_p": "p.Gly1271Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416738.3",
"strand": false,
"transcript": "ENST00000448424.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1354,
"aa_ref": "G",
"aa_start": 1244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": 3732,
"cds_end": null,
"cds_length": 4065,
"cds_start": 3730,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000400366.6",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3730_3732delGGCinsTCG",
"hgvs_p": "p.Gly1244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383217.3",
"strand": false,
"transcript": "ENST00000400366.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "G",
"aa_start": 925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 2849,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2773,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000400370.8",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.2773_2775delGGCinsTCG",
"hgvs_p": "p.Gly925Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383221.3",
"strand": false,
"transcript": "ENST00000400370.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000634308.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.*1164_*1166delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489234.1",
"strand": false,
"transcript": "ENST00000634308.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5653,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000634620.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.4807_4809delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000634620.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000634810.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.3408_3410delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000634810.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000634308.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.*1164_*1166delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489234.1",
"strand": false,
"transcript": "ENST00000634308.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "G",
"aa_start": 1355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6652,
"cdna_start": 4232,
"cds_end": null,
"cds_length": 4398,
"cds_start": 4063,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406511.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.4063_4065delGGCinsTCG",
"hgvs_p": "p.Gly1355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393440.1",
"strand": false,
"transcript": "NM_001406511.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "G",
"aa_start": 1355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6891,
"cdna_start": 4471,
"cds_end": null,
"cds_length": 4398,
"cds_start": 4063,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406512.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.4063_4065delGGCinsTCG",
"hgvs_p": "p.Gly1355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393441.1",
"strand": false,
"transcript": "NM_001406512.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "G",
"aa_start": 1355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6686,
"cdna_start": 4266,
"cds_end": null,
"cds_length": 4398,
"cds_start": 4063,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873567.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.4063_4065delGGCinsTCG",
"hgvs_p": "p.Gly1355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543626.1",
"strand": false,
"transcript": "ENST00000873567.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "G",
"aa_start": 1355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6961,
"cdna_start": 4547,
"cds_end": null,
"cds_length": 4398,
"cds_start": 4063,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911501.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.4063_4065delGGCinsTCG",
"hgvs_p": "p.Gly1355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581560.1",
"strand": false,
"transcript": "ENST00000911501.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "G",
"aa_start": 1353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6646,
"cdna_start": 4226,
"cds_end": null,
"cds_length": 4392,
"cds_start": 4057,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406513.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.4057_4059delGGCinsTCG",
"hgvs_p": "p.Gly1353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393442.1",
"strand": false,
"transcript": "NM_001406513.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "G",
"aa_start": 1353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7271,
"cdna_start": 4851,
"cds_end": null,
"cds_length": 4392,
"cds_start": 4057,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873569.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.4057_4059delGGCinsTCG",
"hgvs_p": "p.Gly1353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543628.1",
"strand": false,
"transcript": "ENST00000873569.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "G",
"aa_start": 1353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6168,
"cdna_start": 4234,
"cds_end": null,
"cds_length": 4392,
"cds_start": 4057,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873570.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.4057_4059delGGCinsTCG",
"hgvs_p": "p.Gly1353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543629.1",
"strand": false,
"transcript": "ENST00000873570.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "G",
"aa_start": 1344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6565,
"cdna_start": 4145,
"cds_end": null,
"cds_length": 4365,
"cds_start": 4030,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406514.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.4030_4032delGGCinsTCG",
"hgvs_p": "p.Gly1344Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393443.1",
"strand": false,
"transcript": "NM_001406514.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "G",
"aa_start": 1337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6544,
"cdna_start": 4124,
"cds_end": null,
"cds_length": 4344,
"cds_start": 4009,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406515.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.4009_4011delGGCinsTCG",
"hgvs_p": "p.Gly1337Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393444.1",
"strand": false,
"transcript": "NM_001406515.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "G",
"aa_start": 1337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6837,
"cdna_start": 4417,
"cds_end": null,
"cds_length": 4344,
"cds_start": 4009,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406516.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.4009_4011delGGCinsTCG",
"hgvs_p": "p.Gly1337Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393445.1",
"strand": false,
"transcript": "NM_001406516.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1433,
"aa_ref": "G",
"aa_start": 1323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6502,
"cdna_start": 4082,
"cds_end": null,
"cds_length": 4302,
"cds_start": 3967,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406517.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3967_3969delGGCinsTCG",
"hgvs_p": "p.Gly1323Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393446.1",
"strand": false,
"transcript": "NM_001406517.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1433,
"aa_ref": "G",
"aa_start": 1323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6689,
"cdna_start": 4269,
"cds_end": null,
"cds_length": 4302,
"cds_start": 3967,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406518.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3967_3969delGGCinsTCG",
"hgvs_p": "p.Gly1323Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393447.1",
"strand": false,
"transcript": "NM_001406518.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1420,
"aa_ref": "G",
"aa_start": 1310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6463,
"cdna_start": 4043,
"cds_end": null,
"cds_length": 4263,
"cds_start": 3928,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406519.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3928_3930delGGCinsTCG",
"hgvs_p": "p.Gly1310Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393448.1",
"strand": false,
"transcript": "NM_001406519.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "G",
"aa_start": 1307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6454,
"cdna_start": 4034,
"cds_end": null,
"cds_length": 4254,
"cds_start": 3919,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406520.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3919_3921delGGCinsTCG",
"hgvs_p": "p.Gly1307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393449.1",
"strand": false,
"transcript": "NM_001406520.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "G",
"aa_start": 1307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6508,
"cdna_start": 4088,
"cds_end": null,
"cds_length": 4254,
"cds_start": 3919,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406521.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3919_3921delGGCinsTCG",
"hgvs_p": "p.Gly1307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393450.1",
"strand": false,
"transcript": "NM_001406521.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "G",
"aa_start": 1307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6747,
"cdna_start": 4327,
"cds_end": null,
"cds_length": 4254,
"cds_start": 3919,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406522.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3919_3921delGGCinsTCG",
"hgvs_p": "p.Gly1307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393451.1",
"strand": false,
"transcript": "NM_001406522.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "G",
"aa_start": 1307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6540,
"cdna_start": 4120,
"cds_end": null,
"cds_length": 4254,
"cds_start": 3919,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873568.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3919_3921delGGCinsTCG",
"hgvs_p": "p.Gly1307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543627.1",
"strand": false,
"transcript": "ENST00000873568.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "G",
"aa_start": 1296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6421,
"cdna_start": 4001,
"cds_end": null,
"cds_length": 4221,
"cds_start": 3886,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406524.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3886_3888delGGCinsTCG",
"hgvs_p": "p.Gly1296Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393453.1",
"strand": false,
"transcript": "NM_001406524.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1404,
"aa_ref": "G",
"aa_start": 1294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6415,
"cdna_start": 3995,
"cds_end": null,
"cds_length": 4215,
"cds_start": 3880,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406523.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3880_3882delGGCinsTCG",
"hgvs_p": "p.Gly1294Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393452.1",
"strand": false,
"transcript": "NM_001406523.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1400,
"aa_ref": "G",
"aa_start": 1290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6403,
"cdna_start": 3983,
"cds_end": null,
"cds_length": 4203,
"cds_start": 3868,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406525.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3868_3870delGGCinsTCG",
"hgvs_p": "p.Gly1290Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393454.1",
"strand": false,
"transcript": "NM_001406525.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1397,
"aa_ref": "G",
"aa_start": 1287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6394,
"cdna_start": 3974,
"cds_end": null,
"cds_length": 4194,
"cds_start": 3859,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406526.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3859_3861delGGCinsTCG",
"hgvs_p": "p.Gly1287Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393455.1",
"strand": false,
"transcript": "NM_001406526.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1387,
"aa_ref": "G",
"aa_start": 1277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6364,
"cdna_start": 3944,
"cds_end": null,
"cds_length": 4164,
"cds_start": 3829,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330578.2",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3829_3831delGGCinsTCG",
"hgvs_p": "p.Gly1277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317507.1",
"strand": false,
"transcript": "NM_001330578.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1387,
"aa_ref": "G",
"aa_start": 1277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6418,
"cdna_start": 3998,
"cds_end": null,
"cds_length": 4164,
"cds_start": 3829,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406527.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3829_3831delGGCinsTCG",
"hgvs_p": "p.Gly1277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393456.1",
"strand": false,
"transcript": "NM_001406527.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1387,
"aa_ref": "G",
"aa_start": 1277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6602,
"cdna_start": 4182,
"cds_end": null,
"cds_length": 4164,
"cds_start": 3829,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406528.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3829_3831delGGCinsTCG",
"hgvs_p": "p.Gly1277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393457.1",
"strand": false,
"transcript": "NM_001406528.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1387,
"aa_ref": "G",
"aa_start": 1277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4308,
"cdna_start": 3905,
"cds_end": null,
"cds_length": 4164,
"cds_start": 3829,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673772.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3829_3831delGGCinsTCG",
"hgvs_p": "p.Gly1277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501168.1",
"strand": false,
"transcript": "ENST00000673772.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1385,
"aa_ref": "G",
"aa_start": 1275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6358,
"cdna_start": 3938,
"cds_end": null,
"cds_length": 4158,
"cds_start": 3823,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406530.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3823_3825delGGCinsTCG",
"hgvs_p": "p.Gly1275Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393459.1",
"strand": false,
"transcript": "NM_001406530.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1381,
"aa_ref": "G",
"aa_start": 1271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6346,
"cdna_start": 3926,
"cds_end": null,
"cds_length": 4146,
"cds_start": 3811,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330579.2",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3811_3813delGGCinsTCG",
"hgvs_p": "p.Gly1271Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317508.1",
"strand": false,
"transcript": "NM_001330579.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1381,
"aa_ref": "G",
"aa_start": 1271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6400,
"cdna_start": 3980,
"cds_end": null,
"cds_length": 4146,
"cds_start": 3811,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406531.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3811_3813delGGCinsTCG",
"hgvs_p": "p.Gly1271Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393460.1",
"strand": false,
"transcript": "NM_001406531.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1381,
"aa_ref": "G",
"aa_start": 1271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6823,
"cdna_start": 4403,
"cds_end": null,
"cds_length": 4146,
"cds_start": 3811,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406532.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3811_3813delGGCinsTCG",
"hgvs_p": "p.Gly1271Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393461.1",
"strand": false,
"transcript": "NM_001406532.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "G",
"aa_start": 1259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6310,
"cdna_start": 3890,
"cds_end": null,
"cds_length": 4110,
"cds_start": 3775,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406534.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3775_3777delGGCinsTCG",
"hgvs_p": "p.Gly1259Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393463.1",
"strand": false,
"transcript": "NM_001406534.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "G",
"aa_start": 1245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6268,
"cdna_start": 3848,
"cds_end": null,
"cds_length": 4068,
"cds_start": 3733,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406535.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3733_3735delGGCinsTCG",
"hgvs_p": "p.Gly1245Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393464.1",
"strand": false,
"transcript": "NM_001406535.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "G",
"aa_start": 1245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6268,
"cdna_start": 3848,
"cds_end": null,
"cds_length": 4068,
"cds_start": 3733,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406536.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3733_3735delGGCinsTCG",
"hgvs_p": "p.Gly1245Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393465.1",
"strand": false,
"transcript": "NM_001406536.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1354,
"aa_ref": "G",
"aa_start": 1244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6265,
"cdna_start": 3845,
"cds_end": null,
"cds_length": 4065,
"cds_start": 3730,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001243182.2",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3730_3732delGGCinsTCG",
"hgvs_p": "p.Gly1244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230111.1",
"strand": false,
"transcript": "NM_001243182.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "G",
"aa_start": 1242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6313,
"cdna_start": 3893,
"cds_end": null,
"cds_length": 4059,
"cds_start": 3724,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406537.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3724_3726delGGCinsTCG",
"hgvs_p": "p.Gly1242Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393466.1",
"strand": false,
"transcript": "NM_001406537.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "G",
"aa_start": 1229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6220,
"cdna_start": 3800,
"cds_end": null,
"cds_length": 4020,
"cds_start": 3685,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406538.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3685_3687delGGCinsTCG",
"hgvs_p": "p.Gly1229Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393467.1",
"strand": false,
"transcript": "NM_001406538.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "G",
"aa_start": 1212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6298,
"cdna_start": 3878,
"cds_end": null,
"cds_length": 3969,
"cds_start": 3634,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406539.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3634_3636delGGCinsTCG",
"hgvs_p": "p.Gly1212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393468.1",
"strand": false,
"transcript": "NM_001406539.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "G",
"aa_start": 1206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6151,
"cdna_start": 3731,
"cds_end": null,
"cds_length": 3951,
"cds_start": 3616,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406540.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3616_3618delGGCinsTCG",
"hgvs_p": "p.Gly1206Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393469.1",
"strand": false,
"transcript": "NM_001406540.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "G",
"aa_start": 1193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6166,
"cdna_start": 3746,
"cds_end": null,
"cds_length": 3912,
"cds_start": 3577,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406541.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3577_3579delGGCinsTCG",
"hgvs_p": "p.Gly1193Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393470.1",
"strand": false,
"transcript": "NM_001406541.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "G",
"aa_start": 1193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6112,
"cdna_start": 3692,
"cds_end": null,
"cds_length": 3912,
"cds_start": 3577,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406542.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3577_3579delGGCinsTCG",
"hgvs_p": "p.Gly1193Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393471.1",
"strand": false,
"transcript": "NM_001406542.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "G",
"aa_start": 1193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6048,
"cdna_start": 3633,
"cds_end": null,
"cds_length": 3912,
"cds_start": 3577,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713660.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3577_3579delGGCinsTCG",
"hgvs_p": "p.Gly1193Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518962.1",
"strand": false,
"transcript": "ENST00000713660.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1301,
"aa_ref": "G",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6289,
"cdna_start": 3869,
"cds_end": null,
"cds_length": 3906,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406543.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3571_3573delGGCinsTCG",
"hgvs_p": "p.Gly1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393472.1",
"strand": false,
"transcript": "NM_001406543.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "G",
"aa_start": 1161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6016,
"cdna_start": 3596,
"cds_end": null,
"cds_length": 3816,
"cds_start": 3481,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406544.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3481_3483delGGCinsTCG",
"hgvs_p": "p.Gly1161Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393473.1",
"strand": false,
"transcript": "NM_001406544.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1258,
"aa_ref": "G",
"aa_start": 1148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5977,
"cdna_start": 3557,
"cds_end": null,
"cds_length": 3777,
"cds_start": 3442,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001005918.3",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3442_3444delGGCinsTCG",
"hgvs_p": "p.Gly1148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005918.1",
"strand": false,
"transcript": "NM_001005918.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1258,
"aa_ref": "G",
"aa_start": 1148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5972,
"cdna_start": 3557,
"cds_end": null,
"cds_length": 3777,
"cds_start": 3442,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674147.2",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3442_3444delGGCinsTCG",
"hgvs_p": "p.Gly1148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500964.2",
"strand": false,
"transcript": "ENST00000674147.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "G",
"aa_start": 1139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5950,
"cdna_start": 3530,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3415,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406545.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3415_3417delGGCinsTCG",
"hgvs_p": "p.Gly1139Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393474.1",
"strand": false,
"transcript": "NM_001406545.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "G",
"aa_start": 1139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8132,
"cdna_start": 4195,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3415,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713659.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3415_3417delGGCinsTCG",
"hgvs_p": "p.Gly1139Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518961.1",
"strand": false,
"transcript": "ENST00000713659.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1238,
"aa_ref": "G",
"aa_start": 1128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5917,
"cdna_start": 3497,
"cds_end": null,
"cds_length": 3717,
"cds_start": 3382,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406546.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3382_3384delGGCinsTCG",
"hgvs_p": "p.Gly1128Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393475.1",
"strand": false,
"transcript": "NM_001406546.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "G",
"aa_start": 1074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5755,
"cdna_start": 3335,
"cds_end": null,
"cds_length": 3555,
"cds_start": 3220,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406547.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3220_3222delGGCinsTCG",
"hgvs_p": "p.Gly1074Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393476.1",
"strand": false,
"transcript": "NM_001406547.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "G",
"aa_start": 925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5308,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2773,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406548.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.2773_2775delGGCinsTCG",
"hgvs_p": "p.Gly925Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393477.1",
"strand": false,
"transcript": "NM_001406548.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4305,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000634296.2",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.*1713_*1715delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489512.2",
"strand": false,
"transcript": "ENST00000634296.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2800,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000673696.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.1386_1388delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000673696.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7022,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000673864.2",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.*2807_*2809delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501045.2",
"strand": false,
"transcript": "ENST00000673864.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6613,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000673867.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.4202_4204delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000673867.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3336,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000673923.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.929_931delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000673923.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4305,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000634296.2",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.*1713_*1715delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489512.2",
"strand": false,
"transcript": "ENST00000634296.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7022,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000673864.2",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.*2807_*2809delGGCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501045.2",
"strand": false,
"transcript": "ENST00000673864.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.52,
"pos": 51935652,
"ref": "GCC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_000053.4"
}
]
}