← 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: 11-5389801-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=5389801&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 5389801,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001004756.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR51M1",
"gene_hgnc_id": 14847,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Leu135Phe",
"transcript": "NM_001004756.3",
"protein_id": "NP_001004756.2",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 326,
"cds_start": 403,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000642046.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004756.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR51M1",
"gene_hgnc_id": 14847,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Leu135Phe",
"transcript": "ENST00000642046.1",
"protein_id": "ENSP00000493005.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 326,
"cds_start": 403,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001004756.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642046.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HBE1",
"gene_hgnc_id": 4830,
"hgvs_c": "c.-267+115768G>A",
"hgvs_p": null,
"transcript": "ENST00000292896.3",
"protein_id": "ENSP00000292896.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292896.3"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HBE1",
"gene_hgnc_id": 4830,
"hgvs_c": "c.-309-107850G>A",
"hgvs_p": null,
"transcript": "ENST00000380237.5",
"protein_id": "ENSP00000369586.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380237.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000239920",
"gene_hgnc_id": null,
"hgvs_c": "n.*740-43902G>A",
"hgvs_p": null,
"transcript": "ENST00000380259.7",
"protein_id": "ENSP00000369609.3",
"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": "ENST00000380259.7"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OR51B5",
"gene_hgnc_id": 19599,
"hgvs_c": "n.-359-42891G>A",
"hgvs_p": null,
"transcript": "ENST00000418729.1",
"protein_id": "ENSP00000495989.1",
"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": "non_stop_decay",
"feature": "ENST00000418729.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR51M1",
"gene_hgnc_id": 14847,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Leu135Phe",
"transcript": "ENST00000328611.5",
"protein_id": "ENSP00000333196.3",
"transcript_support_level": 6,
"aa_start": 135,
"aa_end": null,
"aa_length": 326,
"cds_start": 403,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328611.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OR51B5",
"gene_hgnc_id": 19599,
"hgvs_c": "c.-359-42891G>A",
"hgvs_p": null,
"transcript": "NM_001005567.3",
"protein_id": "NP_001005567.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005567.3"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HBG2",
"gene_hgnc_id": 4832,
"hgvs_c": "c.-74+115550G>A",
"hgvs_p": null,
"transcript": "ENST00000380252.6",
"protein_id": "ENSP00000369602.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": null,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380252.6"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OR51B5",
"gene_hgnc_id": 19599,
"hgvs_c": "n.85-42891G>A",
"hgvs_p": null,
"transcript": "ENST00000415970.6",
"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": "ENST00000415970.6"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OR51B5",
"gene_hgnc_id": 19599,
"hgvs_c": "n.46-42891G>A",
"hgvs_p": null,
"transcript": "ENST00000420465.6",
"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": "ENST00000420465.6"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OR51B5",
"gene_hgnc_id": 19599,
"hgvs_c": "n.46-42891G>A",
"hgvs_p": null,
"transcript": "ENST00000420726.6",
"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": "ENST00000420726.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OR51M1",
"gene_hgnc_id": 14847,
"hgvs_c": "n.213-1796C>T",
"hgvs_p": null,
"transcript": "ENST00000641529.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000641529.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OR51B5",
"gene_hgnc_id": 19599,
"hgvs_c": "n.85-42891G>A",
"hgvs_p": null,
"transcript": "NR_038321.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_038321.2"
}
],
"gene_symbol": "OR51M1",
"gene_hgnc_id": 14847,
"dbsnp": "rs1498468",
"frequency_reference_population": 0.7983375,
"hom_count_reference_population": 517613,
"allele_count_reference_population": 1288314,
"gnomad_exomes_af": 0.800662,
"gnomad_genomes_af": 0.776006,
"gnomad_exomes_ac": 1170271,
"gnomad_genomes_ac": 118043,
"gnomad_exomes_homalt": 471364,
"gnomad_genomes_homalt": 46249,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.523545827505586e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.097,
"revel_prediction": "Benign",
"alphamissense_score": 0.0465,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.11,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001004756.3",
"gene_symbol": "OR51M1",
"hgnc_id": 14847,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Leu135Phe"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001005567.3",
"gene_symbol": "OR51B5",
"hgnc_id": 19599,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-359-42891G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000292896.3",
"gene_symbol": "HBE1",
"hgnc_id": 4830,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-267+115768G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000380259.7",
"gene_symbol": "ENSG00000239920",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*740-43902G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000380252.6",
"gene_symbol": "HBG2",
"hgnc_id": 4832,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.-74+115550G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}