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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: 6-142764856-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=142764856&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 142764856,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000367603.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "NM_006734.4",
"protein_id": "NP_006725.3",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6179,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "ENST00000367603.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "ENST00000367603.8",
"protein_id": "ENSP00000356575.2",
"transcript_support_level": 1,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6179,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "NM_006734.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "NM_001438449.1",
"protein_id": "NP_001425378.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6344,
"cdna_end": null,
"cdna_length": 9862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "NM_001438450.1",
"protein_id": "NP_001425379.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6418,
"cdna_end": null,
"cdna_length": 9936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "NM_001438451.1",
"protein_id": "NP_001425380.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6247,
"cdna_end": null,
"cdna_length": 9765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "ENST00000012134.7",
"protein_id": "ENSP00000012134.2",
"transcript_support_level": 5,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6237,
"cdna_end": null,
"cdna_length": 9755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "ENST00000367604.6",
"protein_id": "ENSP00000356576.1",
"transcript_support_level": 5,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6523,
"cdna_end": null,
"cdna_length": 10032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "ENST00000703918.1",
"protein_id": "ENSP00000515552.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6166,
"cdna_end": null,
"cdna_length": 8512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.His92Asn",
"transcript": "ENST00000703916.1",
"protein_id": "ENSP00000515550.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 717,
"cds_start": 274,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.His92Asn",
"transcript": "ENST00000703917.1",
"protein_id": "ENSP00000515551.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 717,
"cds_start": 274,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "XM_024446417.2",
"protein_id": "XP_024302185.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6455,
"cdna_end": null,
"cdna_length": 9973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "XM_024446419.2",
"protein_id": "XP_024302187.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6477,
"cdna_end": null,
"cdna_length": 9995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "XM_047418707.1",
"protein_id": "XP_047274663.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
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"cds_length": 7341,
"cdna_start": 45972,
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"cdna_length": 49490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "XM_047418708.1",
"protein_id": "XP_047274664.1",
"transcript_support_level": null,
"aa_start": 1821,
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"cds_start": 5461,
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"cdna_start": 15576,
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"cdna_length": 19094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "XM_047418709.1",
"protein_id": "XP_047274665.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
"cds_end": null,
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"cdna_start": 10229,
"cdna_end": null,
"cdna_length": 13747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "XM_047418710.1",
"protein_id": "XP_047274666.1",
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"cdna_start": 10303,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "XM_047418712.1",
"protein_id": "XP_047274668.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
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"cdna_start": 6253,
"cdna_end": null,
"cdna_length": 9771,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "XM_047418714.1",
"protein_id": "XP_047274670.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
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"cdna_start": 27085,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "XM_047418715.1",
"protein_id": "XP_047274671.1",
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"aa_end": null,
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"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn",
"transcript": "XM_047418716.1",
"protein_id": "XP_047274672.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5461,
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"cdna_start": 6263,
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"cdna_length": 9781,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"dbsnp": "rs1554275655",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9533949494361877,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.648,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9997,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000367603.8",
"gene_symbol": "HIVEP2",
"hgnc_id": 4921,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5461C>A",
"hgvs_p": "p.His1821Asn"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}