← 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: 5-96783162-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=96783162&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 96783162,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000443439.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "NM_001040458.3",
"protein_id": "NP_001035548.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 941,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": "ENST00000443439.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "ENST00000443439.7",
"protein_id": "ENSP00000406304.2",
"transcript_support_level": 1,
"aa_start": 725,
"aa_end": null,
"aa_length": 941,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": "NM_001040458.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "ENST00000296754.7",
"protein_id": "ENSP00000296754.3",
"transcript_support_level": 1,
"aa_start": 725,
"aa_end": null,
"aa_length": 948,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2432,
"cdna_end": null,
"cdna_length": 5495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "NM_001349244.2",
"protein_id": "NP_001336173.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 948,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "NM_016442.5",
"protein_id": "NP_057526.3",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 948,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "NM_001198541.3",
"protein_id": "NP_001185470.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 941,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "XM_005272015.6",
"protein_id": "XP_005272072.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 951,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 6932,
"cdna_end": null,
"cdna_length": 8210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "XM_005272016.5",
"protein_id": "XP_005272073.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 951,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "XM_011543484.3",
"protein_id": "XP_011541786.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 951,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 4608,
"cdna_end": null,
"cdna_length": 5886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "XM_011543485.3",
"protein_id": "XP_011541787.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 951,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 4428,
"cdna_end": null,
"cdna_length": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "XM_017009581.2",
"protein_id": "XP_016865070.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 951,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 4454,
"cdna_end": null,
"cdna_length": 5732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "XM_047417305.1",
"protein_id": "XP_047273261.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 951,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "XM_047417306.1",
"protein_id": "XP_047273262.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 951,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "XM_047417307.1",
"protein_id": "XP_047273263.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 951,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "XM_047417308.1",
"protein_id": "XP_047273264.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 948,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 5313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "XM_047417309.1",
"protein_id": "XP_047273265.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 948,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 5309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "XM_047417310.1",
"protein_id": "XP_047273266.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 948,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro",
"transcript": "XM_011543486.4",
"protein_id": "XP_011541788.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 941,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 7176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1079G>C",
"hgvs_p": "p.Arg360Pro",
"transcript": "XM_017009583.3",
"protein_id": "XP_016865072.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 586,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "n.598G>C",
"hgvs_p": null,
"transcript": "ENST00000514604.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"dbsnp": "rs17482078",
"frequency_reference_population": 0.000004788394,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478839,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.888455331325531,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.364,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8893,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.738,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "ENST00000443439.7",
"gene_symbol": "ERAP1",
"hgnc_id": 18173,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2174G>C",
"hgvs_p": "p.Arg725Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}