← 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: 19-9854629-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=9854629&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 9854629,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001304347.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"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": "OLFM2",
"gene_hgnc_id": 17189,
"hgvs_c": "c.922G>C",
"hgvs_p": "p.Gly308Arg",
"transcript": "NM_058164.4",
"protein_id": "NP_477512.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 454,
"cds_start": 922,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264833.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058164.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"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": "OLFM2",
"gene_hgnc_id": 17189,
"hgvs_c": "c.922G>C",
"hgvs_p": "p.Gly308Arg",
"transcript": "ENST00000264833.9",
"protein_id": "ENSP00000264833.3",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 454,
"cds_start": 922,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_058164.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264833.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "OLFM2",
"gene_hgnc_id": 17189,
"hgvs_c": "c.994G>C",
"hgvs_p": "p.Gly332Arg",
"transcript": "NM_001304347.2",
"protein_id": "NP_001291276.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 478,
"cds_start": 994,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304347.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "OLFM2",
"gene_hgnc_id": 17189,
"hgvs_c": "c.994G>C",
"hgvs_p": "p.Gly332Arg",
"transcript": "ENST00000593091.2",
"protein_id": "ENSP00000465809.2",
"transcript_support_level": 5,
"aa_start": 332,
"aa_end": null,
"aa_length": 478,
"cds_start": 994,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593091.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "OLFM2",
"gene_hgnc_id": 17189,
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"transcript": "ENST00000971550.1",
"protein_id": "ENSP00000641609.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 451,
"cds_start": 913,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971550.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM2",
"gene_hgnc_id": 17189,
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Gly259Arg",
"transcript": "ENST00000882493.1",
"protein_id": "ENSP00000552552.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 405,
"cds_start": 775,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882493.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM2",
"gene_hgnc_id": 17189,
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Gly230Arg",
"transcript": "NM_001304348.2",
"protein_id": "NP_001291277.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 376,
"cds_start": 688,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304348.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM2",
"gene_hgnc_id": 17189,
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Gly230Arg",
"transcript": "ENST00000590841.5",
"protein_id": "ENSP00000464877.1",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 376,
"cds_start": 688,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590841.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM2",
"gene_hgnc_id": 17189,
"hgvs_c": "c.448G>C",
"hgvs_p": "p.Gly150Arg",
"transcript": "ENST00000923214.1",
"protein_id": "ENSP00000593273.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 296,
"cds_start": 448,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923214.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "OLFM2",
"gene_hgnc_id": 17189,
"hgvs_c": "c.718G>C",
"hgvs_p": "p.Gly240Arg",
"transcript": "XM_047439713.1",
"protein_id": "XP_047295669.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 386,
"cds_start": 718,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439713.1"
},
{
"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": "OLFM2",
"gene_hgnc_id": 17189,
"hgvs_c": "n.*327G>C",
"hgvs_p": null,
"transcript": "ENST00000592448.1",
"protein_id": "ENSP00000466018.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000592448.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLFM2",
"gene_hgnc_id": 17189,
"hgvs_c": "n.*327G>C",
"hgvs_p": null,
"transcript": "ENST00000592448.1",
"protein_id": "ENSP00000466018.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000592448.1"
}
],
"gene_symbol": "OLFM2",
"gene_hgnc_id": 17189,
"dbsnp": "rs773856461",
"frequency_reference_population": 6.840797e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8408e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9358001947402954,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.874,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9815,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.721,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001304347.2",
"gene_symbol": "OLFM2",
"hgnc_id": 17189,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.994G>C",
"hgvs_p": "p.Gly332Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}