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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: 4-87337352-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=87337352&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 87337352,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016245.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276His",
"transcript": "NM_016245.5",
"protein_id": "NP_057329.3",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 300,
"cds_start": 827,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358290.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016245.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276His",
"transcript": "ENST00000358290.9",
"protein_id": "ENSP00000351035.4",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 300,
"cds_start": 827,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016245.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358290.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "ENST00000854937.1",
"protein_id": "ENSP00000524996.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 311,
"cds_start": 860,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854937.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274His",
"transcript": "ENST00000854933.1",
"protein_id": "ENSP00000524992.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 298,
"cds_start": 821,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854933.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273His",
"transcript": "ENST00000970124.1",
"protein_id": "ENSP00000640183.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 297,
"cds_start": 818,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970124.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"transcript": "ENST00000854934.1",
"protein_id": "ENSP00000524993.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 264,
"cds_start": 719,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854934.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237His",
"transcript": "ENST00000854936.1",
"protein_id": "ENSP00000524995.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 261,
"cds_start": 710,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854936.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000507286.1",
"protein_id": "ENSP00000423775.1",
"transcript_support_level": 5,
"aa_start": 232,
"aa_end": null,
"aa_length": 256,
"cds_start": 695,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507286.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230His",
"transcript": "ENST00000854935.1",
"protein_id": "ENSP00000524994.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 254,
"cds_start": 689,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854935.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000926988.1",
"protein_id": "ENSP00000597047.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 220,
"cds_start": 587,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926988.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "n.431G>A",
"hgvs_p": null,
"transcript": "ENST00000502576.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000502576.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "n.441G>A",
"hgvs_p": null,
"transcript": "ENST00000507518.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000507518.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"hgvs_c": "n.338G>A",
"hgvs_p": null,
"transcript": "ENST00000512344.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000512344.5"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255723",
"gene_hgnc_id": null,
"hgvs_c": "n.187+3138G>A",
"hgvs_p": null,
"transcript": "ENST00000508163.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000508163.1"
}
],
"gene_symbol": "HSD17B11",
"gene_hgnc_id": 22960,
"dbsnp": "rs545124516",
"frequency_reference_population": 0.000023992838,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000251458,
"gnomad_genomes_af": 0.0000131446,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2896674871444702,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.437,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1363,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.358,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"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": "NM_016245.5",
"gene_symbol": "HSD17B11",
"hgnc_id": 22960,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000508163.1",
"gene_symbol": "ENSG00000255723",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.187+3138G>A",
"hgvs_p": null
}
],
"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
}