← 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: 1-154344661-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154344661&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154344661,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000368489.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B2",
"gene_hgnc_id": 13534,
"hgvs_c": "c.2162T>C",
"hgvs_p": "p.Met721Thr",
"transcript": "NM_001370597.1",
"protein_id": "NP_001357526.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": "ENST00000368489.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B2",
"gene_hgnc_id": 13534,
"hgvs_c": "c.2162T>C",
"hgvs_p": "p.Met721Thr",
"transcript": "ENST00000368489.6",
"protein_id": "ENSP00000357475.4",
"transcript_support_level": 1,
"aa_start": 721,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": "NM_001370597.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B2",
"gene_hgnc_id": 13534,
"hgvs_c": "c.2261T>C",
"hgvs_p": "p.Met754Thr",
"transcript": "ENST00000672630.1",
"protein_id": "ENSP00000500034.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 1223,
"cds_start": 2261,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 5857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B2",
"gene_hgnc_id": 13534,
"hgvs_c": "c.2219T>C",
"hgvs_p": "p.Met740Thr",
"transcript": "NM_001367934.1",
"protein_id": "NP_001354863.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2219,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 6006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B2",
"gene_hgnc_id": 13534,
"hgvs_c": "c.2219T>C",
"hgvs_p": "p.Met740Thr",
"transcript": "ENST00000696573.1",
"protein_id": "ENSP00000512728.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2219,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 2407,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B2",
"gene_hgnc_id": 13534,
"hgvs_c": "c.2165T>C",
"hgvs_p": "p.Met722Thr",
"transcript": "NM_001370596.1",
"protein_id": "NP_001357525.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2165,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 5977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B2",
"gene_hgnc_id": 13534,
"hgvs_c": "c.2162T>C",
"hgvs_p": "p.Met721Thr",
"transcript": "NM_001372009.1",
"protein_id": "NP_001358938.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2314,
"cdna_end": null,
"cdna_length": 5911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B2",
"gene_hgnc_id": 13534,
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Met741Thr",
"transcript": "XM_047425999.1",
"protein_id": "XP_047281955.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2222,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 6009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B2",
"gene_hgnc_id": 13534,
"hgvs_c": "n.2434T>C",
"hgvs_p": null,
"transcript": "XR_007062016.1",
"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": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP8B2",
"gene_hgnc_id": 13534,
"dbsnp": "rs145714388",
"frequency_reference_population": 0.00005402257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 87,
"gnomad_exomes_af": 0.0000315464,
"gnomad_genomes_af": 0.000269262,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 41,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01357319951057434,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.139,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.808,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000368489.6",
"gene_symbol": "ATP8B2",
"hgnc_id": 13534,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2162T>C",
"hgvs_p": "p.Met721Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}