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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: 17-55268070-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=55268070&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 55268070,
"ref": "G",
"alt": "GA",
"effect": "frameshift_variant",
"transcript": "ENST00000226067.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLF",
"gene_hgnc_id": 4977,
"hgvs_c": "c.436dupA",
"hgvs_p": "p.Ser146fs",
"transcript": "NM_002126.5",
"protein_id": "NP_002117.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 295,
"cds_start": 437,
"cds_end": null,
"cds_length": 888,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 5721,
"mane_select": "ENST00000226067.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLF",
"gene_hgnc_id": 4977,
"hgvs_c": "c.436dupA",
"hgvs_p": "p.Ser146fs",
"transcript": "ENST00000226067.10",
"protein_id": "ENSP00000226067.5",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 295,
"cds_start": 437,
"cds_end": null,
"cds_length": 888,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 5721,
"mane_select": "NM_002126.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLF",
"gene_hgnc_id": 4977,
"hgvs_c": "c.256dupA",
"hgvs_p": "p.Ser86fs",
"transcript": "ENST00000572002.1",
"protein_id": "ENSP00000461455.1",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 236,
"cds_start": 257,
"cds_end": null,
"cds_length": 711,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLF",
"gene_hgnc_id": 4977,
"hgvs_c": "c.181dupA",
"hgvs_p": "p.Ser61fs",
"transcript": "NM_001330375.2",
"protein_id": "NP_001317304.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 210,
"cds_start": 182,
"cds_end": null,
"cds_length": 633,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLF",
"gene_hgnc_id": 4977,
"hgvs_c": "c.181dupA",
"hgvs_p": "p.Ser61fs",
"transcript": "ENST00000430986.6",
"protein_id": "ENSP00000402496.2",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 210,
"cds_start": 182,
"cds_end": null,
"cds_length": 633,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLF",
"gene_hgnc_id": 4977,
"hgvs_c": "c.181dupA",
"hgvs_p": "p.Ser61fs",
"transcript": "ENST00000573945.5",
"protein_id": "ENSP00000460296.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 210,
"cds_start": 182,
"cds_end": null,
"cds_length": 633,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLF",
"gene_hgnc_id": 4977,
"hgvs_c": "c.181dupA",
"hgvs_p": "p.Ser61fs",
"transcript": "ENST00000575345.5",
"protein_id": "ENSP00000460572.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 210,
"cds_start": 182,
"cds_end": null,
"cds_length": 633,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLF",
"gene_hgnc_id": 4977,
"hgvs_c": "c.436dupA",
"hgvs_p": "p.Ser146fs",
"transcript": "XM_005257269.3",
"protein_id": "XP_005257326.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 296,
"cds_start": 437,
"cds_end": null,
"cds_length": 891,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 5602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLF",
"gene_hgnc_id": 4977,
"hgvs_c": "c.181dupA",
"hgvs_p": "p.Ser61fs",
"transcript": "XM_047435895.1",
"protein_id": "XP_047291851.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 211,
"cds_start": 182,
"cds_end": null,
"cds_length": 636,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 5085,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLF",
"gene_hgnc_id": 4977,
"hgvs_c": "n.181dupA",
"hgvs_p": null,
"transcript": "ENST00000570962.1",
"protein_id": "ENSP00000460265.1",
"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": 1310,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLF",
"gene_hgnc_id": 4977,
"hgvs_c": "n.961dupA",
"hgvs_p": null,
"transcript": "XR_002957996.2",
"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": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HLF",
"gene_hgnc_id": 4977,
"dbsnp": "rs193920793",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.882,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000226067.10",
"gene_symbol": "HLF",
"hgnc_id": 4977,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.436dupA",
"hgvs_p": "p.Ser146fs"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}