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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: 18-57692916-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=57692916&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 57692916,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000648908.2",
"consequences": [
{
"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": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1030-919C>T",
"hgvs_p": null,
"transcript": "NM_001374385.1",
"protein_id": "NP_001361314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6161,
"mane_select": "ENST00000648908.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1030-919C>T",
"hgvs_p": null,
"transcript": "ENST00000648908.2",
"protein_id": "ENSP00000497896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6161,
"mane_select": "NM_001374385.1",
"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": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1030-919C>T",
"hgvs_p": null,
"transcript": "NM_005603.6",
"protein_id": "NP_005594.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6158,
"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": 27,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.880-919C>T",
"hgvs_p": null,
"transcript": "NM_001374386.1",
"protein_id": "NP_001361315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1201,
"cds_start": -4,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6063,
"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.571-38498G>A",
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "n.1030-919C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "n.1030-919C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "n.862-919C>T",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP8B1-AS1",
"gene_hgnc_id": 56042,
"hgvs_c": "n.309-45617G>A",
"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.311-42235G>A",
"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.371-3029G>A",
"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.683-38498G>A",
"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,
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"cdna_length": 1311,
"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": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1030-919C>T",
"hgvs_p": null,
"transcript": "XM_047437541.1",
"protein_id": "XP_047293497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
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"cds_length": 3756,
"cdna_start": null,
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"cdna_length": 5950,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1030-919C>T",
"hgvs_p": null,
"transcript": "XM_047437542.1",
"protein_id": "XP_047293498.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1251,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1030-919C>T",
"hgvs_p": null,
"transcript": "XM_047437543.1",
"protein_id": "XP_047293499.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1251,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1030-919C>T",
"hgvs_p": null,
"transcript": "XM_047437544.1",
"protein_id": "XP_047293500.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1030-919C>T",
"hgvs_p": null,
"transcript": "XM_047437545.1",
"protein_id": "XP_047293501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.1030-919C>T",
"hgvs_p": null,
"transcript": "XM_047437546.1",
"protein_id": "XP_047293502.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"cdna_length": 6233,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.916-919C>T",
"hgvs_p": null,
"transcript": "XM_011526023.4",
"protein_id": "XP_011524325.1",
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},
{
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"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.916-919C>T",
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"transcript": "XM_047437547.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"hgvs_c": "c.916-919C>T",
"hgvs_p": null,
"transcript": "XM_047437548.1",
"protein_id": "XP_047293504.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP8B1",
"gene_hgnc_id": 3706,
"dbsnp": "rs319448",
"frequency_reference_population": 0.52134013,
"hom_count_reference_population": 22382,
"allele_count_reference_population": 79251,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.52134,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 79251,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 22382,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.256,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000648908.2",
"gene_symbol": "ATP8B1",
"hgnc_id": 3706,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1030-919C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000588925.5",
"gene_symbol": "ATP8B1-AS1",
"hgnc_id": 56042,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.571-38498G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}