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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: 18-57669433-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=57669433&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 57669433,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000648908.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1982T>C",
"hgvs_p": "p.Ile661Thr",
"transcript": "NM_001374385.1",
"protein_id": "NP_001361314.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1982,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 6161,
"mane_select": "ENST00000648908.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1982T>C",
"hgvs_p": "p.Ile661Thr",
"transcript": "ENST00000648908.2",
"protein_id": "ENSP00000497896.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1982,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 6161,
"mane_select": "NM_001374385.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1982T>C",
"hgvs_p": "p.Ile661Thr",
"transcript": "NM_005603.6",
"protein_id": "NP_005594.2",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1982,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 6158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1832T>C",
"hgvs_p": "p.Ile611Thr",
"transcript": "NM_001374386.1",
"protein_id": "NP_001361315.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1201,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 6063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1982T>C",
"hgvs_p": "p.Ile661Thr",
"transcript": "XM_047437541.1",
"protein_id": "XP_047293497.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1982,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1982T>C",
"hgvs_p": "p.Ile661Thr",
"transcript": "XM_047437542.1",
"protein_id": "XP_047293498.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1982,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1982T>C",
"hgvs_p": "p.Ile661Thr",
"transcript": "XM_047437543.1",
"protein_id": "XP_047293499.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1982,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1982T>C",
"hgvs_p": "p.Ile661Thr",
"transcript": "XM_047437544.1",
"protein_id": "XP_047293500.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1982,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 5953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1982T>C",
"hgvs_p": "p.Ile661Thr",
"transcript": "XM_047437545.1",
"protein_id": "XP_047293501.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1982,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 5990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1982T>C",
"hgvs_p": "p.Ile661Thr",
"transcript": "XM_047437546.1",
"protein_id": "XP_047293502.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1982,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2397,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1868T>C",
"hgvs_p": "p.Ile623Thr",
"transcript": "XM_011526023.4",
"protein_id": "XP_011524325.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1213,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 6047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1868T>C",
"hgvs_p": "p.Ile623Thr",
"transcript": "XM_047437547.1",
"protein_id": "XP_047293503.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1213,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1868T>C",
"hgvs_p": "p.Ile623Thr",
"transcript": "XM_047437548.1",
"protein_id": "XP_047293504.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1213,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 5836,
"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": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "n.1982T>C",
"hgvs_p": null,
"transcript": "ENST00000642462.1",
"protein_id": "ENSP00000494712.1",
"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": 5956,
"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": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "n.1982T>C",
"hgvs_p": null,
"transcript": "ENST00000648039.1",
"protein_id": "ENSP00000497863.1",
"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": 5919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "n.*352T>C",
"hgvs_p": null,
"transcript": "ENST00000648467.1",
"protein_id": "ENSP00000496933.1",
"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": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "n.*352T>C",
"hgvs_p": null,
"transcript": "ENST00000648467.1",
"protein_id": "ENSP00000496933.1",
"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": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP8B1-AS1",
"gene_hgnc_id": 56042,
"hgvs_c": "n.570+27381A>G",
"hgvs_p": null,
"transcript": "ENST00000588925.5",
"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": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP8B1-AS1",
"gene_hgnc_id": 56042,
"hgvs_c": "n.308+27800A>G",
"hgvs_p": null,
"transcript": "ENST00000794640.1",
"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": 454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP8B1-AS1",
"gene_hgnc_id": 56042,
"hgvs_c": "n.310+27381A>G",
"hgvs_p": null,
"transcript": "ENST00000794776.1",
"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": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP8B1-AS1",
"gene_hgnc_id": 56042,
"hgvs_c": "n.371-26512A>G",
"hgvs_p": null,
"transcript": "ENST00000794777.1",
"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": 1091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP8B1-AS1",
"gene_hgnc_id": 56042,
"hgvs_c": "n.682+27381A>G",
"hgvs_p": null,
"transcript": "ENST00000794778.1",
"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": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B1-AS1",
"gene_hgnc_id": 56042,
"hgvs_c": "n.*137A>G",
"hgvs_p": null,
"transcript": "ENST00000592201.2",
"protein_id": null,
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"aa_start": null,
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}
],
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"dbsnp": "rs121909100",
"frequency_reference_population": 0.0001592791,
"hom_count_reference_population": 0,
"allele_count_reference_population": 257,
"gnomad_exomes_af": 0.000165596,
"gnomad_genomes_af": 0.0000985999,
"gnomad_exomes_ac": 242,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9215322732925415,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.921,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4773,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000648908.2",
"gene_symbol": "ATP8B1",
"hgnc_id": 3706,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1982T>C",
"hgvs_p": "p.Ile661Thr"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000588925.5",
"gene_symbol": "ATP8B1-AS1",
"hgnc_id": 56042,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.570+27381A>G",
"hgvs_p": null
}
],
"clinvar_disease": " 1, intrahepatic, of pregnancy,ATP8B1-related disorder,Benign recurrent intrahepatic cholestasis type 1,Cholestasis,Progressive familial intrahepatic cholestasis,Progressive familial intrahepatic cholestasis type 1,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9 LP:1 O:1",
"phenotype_combined": "Benign recurrent intrahepatic cholestasis type 1|Progressive familial intrahepatic cholestasis type 1|not provided|ATP8B1-related disorder|Progressive familial intrahepatic cholestasis type 1;Benign recurrent intrahepatic cholestasis type 1;Cholestasis, intrahepatic, of pregnancy, 1|Progressive familial intrahepatic cholestasis",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}