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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: 6-142759813-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=142759813&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 142759813,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000367603.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "NM_006734.4",
"protein_id": "NP_006725.3",
"transcript_support_level": null,
"aa_start": 2159,
"aa_end": null,
"aa_length": 2446,
"cds_start": 6475,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 7193,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "ENST00000367603.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "ENST00000367603.8",
"protein_id": "ENSP00000356575.2",
"transcript_support_level": 1,
"aa_start": 2159,
"aa_end": null,
"aa_length": 2446,
"cds_start": 6475,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 7193,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "NM_006734.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "NM_001438449.1",
"protein_id": "NP_001425378.1",
"transcript_support_level": null,
"aa_start": 2159,
"aa_end": null,
"aa_length": 2446,
"cds_start": 6475,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 7358,
"cdna_end": null,
"cdna_length": 9862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "NM_001438450.1",
"protein_id": "NP_001425379.1",
"transcript_support_level": null,
"aa_start": 2159,
"aa_end": null,
"aa_length": 2446,
"cds_start": 6475,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 7432,
"cdna_end": null,
"cdna_length": 9936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "NM_001438451.1",
"protein_id": "NP_001425380.1",
"transcript_support_level": null,
"aa_start": 2159,
"aa_end": null,
"aa_length": 2446,
"cds_start": 6475,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 7261,
"cdna_end": null,
"cdna_length": 9765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "ENST00000012134.7",
"protein_id": "ENSP00000012134.2",
"transcript_support_level": 5,
"aa_start": 2159,
"aa_end": null,
"aa_length": 2446,
"cds_start": 6475,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 7251,
"cdna_end": null,
"cdna_length": 9755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "ENST00000367604.6",
"protein_id": "ENSP00000356576.1",
"transcript_support_level": 5,
"aa_start": 2159,
"aa_end": null,
"aa_length": 2446,
"cds_start": 6475,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 7537,
"cdna_end": null,
"cdna_length": 10032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "ENST00000703918.1",
"protein_id": "ENSP00000515552.1",
"transcript_support_level": null,
"aa_start": 2159,
"aa_end": null,
"aa_length": 2446,
"cds_start": 6475,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 7180,
"cdna_end": null,
"cdna_length": 8512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Gly430Arg",
"transcript": "ENST00000703916.1",
"protein_id": "ENSP00000515550.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 717,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Gly430Arg",
"transcript": "ENST00000703917.1",
"protein_id": "ENSP00000515551.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 717,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "XM_024446417.2",
"protein_id": "XP_024302185.1",
"transcript_support_level": null,
"aa_start": 2159,
"aa_end": null,
"aa_length": 2446,
"cds_start": 6475,
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"cds_length": 7341,
"cdna_start": 7469,
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"cdna_length": 9973,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "XM_024446419.2",
"protein_id": "XP_024302187.1",
"transcript_support_level": null,
"aa_start": 2159,
"aa_end": null,
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"cdna_start": 7491,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "XM_047418707.1",
"protein_id": "XP_047274663.1",
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"aa_end": null,
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"cdna_start": 46986,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "XM_047418708.1",
"protein_id": "XP_047274664.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "XM_047418709.1",
"protein_id": "XP_047274665.1",
"transcript_support_level": null,
"aa_start": 2159,
"aa_end": null,
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "XM_047418710.1",
"protein_id": "XP_047274666.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "XM_047418712.1",
"protein_id": "XP_047274668.1",
"transcript_support_level": null,
"aa_start": 2159,
"aa_end": null,
"aa_length": 2446,
"cds_start": 6475,
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"cdna_start": 7267,
"cdna_end": null,
"cdna_length": 9771,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "XM_047418714.1",
"protein_id": "XP_047274670.1",
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"cdna_start": 28099,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "XM_047418715.1",
"protein_id": "XP_047274671.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"transcript": "XM_047418716.1",
"protein_id": "XP_047274672.1",
"transcript_support_level": null,
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"feature": null
}
],
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"dbsnp": "rs761993070",
"frequency_reference_population": 0.000012401901,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000130088,
"gnomad_genomes_af": 0.00000657428,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.655153751373291,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.4371,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.63,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367603.8",
"gene_symbol": "HIVEP2",
"hgnc_id": 4921,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}