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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: 5-96788627-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=96788627&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 96788627,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000443439.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "NM_001040458.3",
"protein_id": "NP_001035548.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 941,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": "ENST00000443439.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "ENST00000443439.7",
"protein_id": "ENSP00000406304.2",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 941,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": "NM_001040458.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "ENST00000296754.7",
"protein_id": "ENSP00000296754.3",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 948,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 5495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "NM_001349244.2",
"protein_id": "NP_001336173.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 948,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "NM_016442.5",
"protein_id": "NP_057526.3",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 948,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "NM_001198541.3",
"protein_id": "NP_001185470.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 941,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "XM_005272015.6",
"protein_id": "XP_005272072.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 951,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 6341,
"cdna_end": null,
"cdna_length": 8210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "XM_005272016.5",
"protein_id": "XP_005272073.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 951,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "XM_011543484.3",
"protein_id": "XP_011541786.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 951,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 4017,
"cdna_end": null,
"cdna_length": 5886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "XM_011543485.3",
"protein_id": "XP_011541787.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 951,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 3837,
"cdna_end": null,
"cdna_length": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "XM_017009581.2",
"protein_id": "XP_016865070.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 951,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 3863,
"cdna_end": null,
"cdna_length": 5732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "XM_047417305.1",
"protein_id": "XP_047273261.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 951,
"cds_start": 1583,
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"cds_length": 2856,
"cdna_start": 1658,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "XM_047417306.1",
"protein_id": "XP_047273262.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
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"cds_start": 1583,
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"cdna_start": 1662,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "XM_047417307.1",
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},
{
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"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "XM_047417308.1",
"protein_id": "XP_047273264.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
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"cds_start": 1583,
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"cdna_start": 1662,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "XM_047417309.1",
"protein_id": "XP_047273265.1",
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},
{
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"strand": false,
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],
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "XM_047417310.1",
"protein_id": "XP_047273266.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "XM_011543486.4",
"protein_id": "XP_011541788.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "ERAP1",
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"hgvs_c": "c.488A>G",
"hgvs_p": "p.Lys163Arg",
"transcript": "XM_017009583.3",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
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"hgvs_c": "n.246A>G",
"hgvs_p": null,
"transcript": "ENST00000507859.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "ERAP1",
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"hgvs_c": "c.1524+1669A>G",
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"transcript": "XM_047417311.1",
"protein_id": "XP_047273267.1",
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"aa_start": null,
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"aa_length": 548,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.1524+1669A>G",
"hgvs_p": null,
"transcript": "XM_047417312.1",
"protein_id": "XP_047273268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"dbsnp": "rs30187",
"frequency_reference_population": 0.6437264,
"hom_count_reference_population": 336155,
"allele_count_reference_population": 1038838,
"gnomad_exomes_af": 0.645743,
"gnomad_genomes_af": 0.624342,
"gnomad_exomes_ac": 943908,
"gnomad_genomes_ac": 94930,
"gnomad_exomes_homalt": 306314,
"gnomad_genomes_homalt": 29841,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0001225185696966946,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.18,
"revel_prediction": "Benign",
"alphamissense_score": 0.1002,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.427,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000443439.7",
"gene_symbol": "ERAP1",
"hgnc_id": 18173,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}