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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: 3-133953723-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=133953723&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 133953723,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005630.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Arg",
"transcript": "NM_005630.3",
"protein_id": "NP_005621.2",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 643,
"cds_start": 664,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310926.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005630.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Arg",
"transcript": "ENST00000310926.11",
"protein_id": "ENSP00000311291.4",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 643,
"cds_start": 664,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005630.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310926.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "n.926G>A",
"hgvs_p": null,
"transcript": "ENST00000464676.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000464676.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Gly235Arg",
"transcript": "ENST00000860072.1",
"protein_id": "ENSP00000530131.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 656,
"cds_start": 703,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860072.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Gly232Arg",
"transcript": "ENST00000860067.1",
"protein_id": "ENSP00000530126.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 653,
"cds_start": 694,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860067.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Gly200Arg",
"transcript": "ENST00000860074.1",
"protein_id": "ENSP00000530133.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 621,
"cds_start": 598,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860074.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Arg",
"transcript": "ENST00000860068.1",
"protein_id": "ENSP00000530127.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 616,
"cds_start": 664,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860068.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Arg",
"transcript": "ENST00000860071.1",
"protein_id": "ENSP00000530130.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 611,
"cds_start": 664,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860071.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Arg",
"transcript": "ENST00000860075.1",
"protein_id": "ENSP00000530134.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 604,
"cds_start": 664,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860075.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Gly176Arg",
"transcript": "ENST00000860069.1",
"protein_id": "ENSP00000530128.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 597,
"cds_start": 526,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860069.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Arg",
"transcript": "ENST00000860070.1",
"protein_id": "ENSP00000530129.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 587,
"cds_start": 496,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860070.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Gly146Arg",
"transcript": "ENST00000493729.5",
"protein_id": "ENSP00000418893.1",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 567,
"cds_start": 436,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493729.5"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "c.398-2379G>A",
"hgvs_p": null,
"transcript": "ENST00000860073.1",
"protein_id": "ENSP00000530132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": null,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860073.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "n.664G>A",
"hgvs_p": null,
"transcript": "ENST00000481359.3",
"protein_id": "ENSP00000420028.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000481359.3"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"hgvs_c": "n.521-5023G>A",
"hgvs_p": null,
"transcript": "ENST00000462770.5",
"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": "retained_intron",
"feature": "ENST00000462770.5"
}
],
"gene_symbol": "SLCO2A1",
"gene_hgnc_id": 10955,
"dbsnp": "rs774795340",
"frequency_reference_population": 0.000007524506,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752451,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9823721051216125,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7099999785423279,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.699,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9921,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.163,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.71,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005630.3",
"gene_symbol": "SLCO2A1",
"hgnc_id": 10955,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Arg"
}
],
"clinvar_disease": " 2, autosomal dominant, autosomal recessive, primary,Hypertrophic osteoarthropathy,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Hypertrophic osteoarthropathy, primary, autosomal recessive, 2|Hypertrophic osteoarthropathy, primary, autosomal dominant|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}