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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: 6-142761469-T-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=142761469&ref=T&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 142761469,
"ref": "T",
"alt": "TC",
"effect": "frameshift_variant",
"transcript": "ENST00000367603.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "NM_006734.4",
"protein_id": "NP_006725.3",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6332,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "ENST00000367603.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "ENST00000367603.8",
"protein_id": "ENSP00000356575.2",
"transcript_support_level": 1,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6332,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "NM_006734.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "NM_001438449.1",
"protein_id": "NP_001425378.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6497,
"cdna_end": null,
"cdna_length": 9862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "NM_001438450.1",
"protein_id": "NP_001425379.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6571,
"cdna_end": null,
"cdna_length": 9936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "NM_001438451.1",
"protein_id": "NP_001425380.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6400,
"cdna_end": null,
"cdna_length": 9765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "ENST00000012134.7",
"protein_id": "ENSP00000012134.2",
"transcript_support_level": 5,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6390,
"cdna_end": null,
"cdna_length": 9755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "ENST00000367604.6",
"protein_id": "ENSP00000356576.1",
"transcript_support_level": 5,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6676,
"cdna_end": null,
"cdna_length": 10032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "ENST00000703918.1",
"protein_id": "ENSP00000515552.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6319,
"cdna_end": null,
"cdna_length": 8512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.427dupG",
"hgvs_p": "p.Glu143fs",
"transcript": "ENST00000703916.1",
"protein_id": "ENSP00000515550.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 717,
"cds_start": 427,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.427dupG",
"hgvs_p": "p.Glu143fs",
"transcript": "ENST00000703917.1",
"protein_id": "ENSP00000515551.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 717,
"cds_start": 427,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "XM_024446417.2",
"protein_id": "XP_024302185.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6608,
"cdna_end": null,
"cdna_length": 9973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "XM_024446419.2",
"protein_id": "XP_024302187.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6630,
"cdna_end": null,
"cdna_length": 9995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "XM_047418707.1",
"protein_id": "XP_047274663.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 46125,
"cdna_end": null,
"cdna_length": 49490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "XM_047418708.1",
"protein_id": "XP_047274664.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 15729,
"cdna_end": null,
"cdna_length": 19094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "XM_047418709.1",
"protein_id": "XP_047274665.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 10382,
"cdna_end": null,
"cdna_length": 13747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "XM_047418710.1",
"protein_id": "XP_047274666.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 10456,
"cdna_end": null,
"cdna_length": 13821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "XM_047418712.1",
"protein_id": "XP_047274668.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6406,
"cdna_end": null,
"cdna_length": 9771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "XM_047418714.1",
"protein_id": "XP_047274670.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 27238,
"cdna_end": null,
"cdna_length": 30603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "XM_047418715.1",
"protein_id": "XP_047274671.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 15797,
"cdna_end": null,
"cdna_length": 19162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs",
"transcript": "XM_047418716.1",
"protein_id": "XP_047274672.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2446,
"cds_start": 5614,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6416,
"cdna_end": null,
"cdna_length": 9781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"dbsnp": "rs869312844",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"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": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000367603.8",
"gene_symbol": "HIVEP2",
"hgnc_id": 4921,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5614dupG",
"hgvs_p": "p.Glu1872fs"
}
],
"clinvar_disease": " autosomal dominant 43,Intellectual disability,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided|Intellectual disability, autosomal dominant 43",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}