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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: 10-79307487-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=79307487&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 79307487,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000334512.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2758delC",
"hgvs_p": "p.Gln920fs",
"transcript": "NM_020338.4",
"protein_id": "NP_065071.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2758,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 3399,
"cdna_end": null,
"cdna_length": 7615,
"mane_select": "ENST00000334512.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2758delC",
"hgvs_p": "p.Gln920fs",
"transcript": "ENST00000334512.10",
"protein_id": "ENSP00000334474.5",
"transcript_support_level": 5,
"aa_start": 920,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2758,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 3399,
"cdna_end": null,
"cdna_length": 7615,
"mane_select": "NM_020338.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2776delC",
"hgvs_p": "p.Gln926fs",
"transcript": "XM_005269988.4",
"protein_id": "XP_005270045.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 3417,
"cdna_end": null,
"cdna_length": 7633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2776delC",
"hgvs_p": "p.Gln926fs",
"transcript": "XM_006717923.4",
"protein_id": "XP_006717986.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 3414,
"cdna_end": null,
"cdna_length": 7630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2776delC",
"hgvs_p": "p.Gln926fs",
"transcript": "XM_006717924.4",
"protein_id": "XP_006717987.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 3336,
"cdna_end": null,
"cdna_length": 7552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2776delC",
"hgvs_p": "p.Gln926fs",
"transcript": "XM_047425538.1",
"protein_id": "XP_047281494.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 3740,
"cdna_end": null,
"cdna_length": 7956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2758delC",
"hgvs_p": "p.Gln920fs",
"transcript": "XM_047425539.1",
"protein_id": "XP_047281495.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2758,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 3722,
"cdna_end": null,
"cdna_length": 7938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2758delC",
"hgvs_p": "p.Gln920fs",
"transcript": "XM_047425540.1",
"protein_id": "XP_047281496.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2758,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 7534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2758delC",
"hgvs_p": "p.Gln920fs",
"transcript": "XM_047425541.1",
"protein_id": "XP_047281497.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2758,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 3396,
"cdna_end": null,
"cdna_length": 7612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2776delC",
"hgvs_p": "p.Gln926fs",
"transcript": "XM_006717925.4",
"protein_id": "XP_006717988.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 986,
"cds_start": 2776,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3417,
"cdna_end": null,
"cdna_length": 7372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2758delC",
"hgvs_p": "p.Gln920fs",
"transcript": "XM_047425542.1",
"protein_id": "XP_047281498.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 980,
"cds_start": 2758,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 3399,
"cdna_end": null,
"cdna_length": 7354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2758delC",
"hgvs_p": "p.Gln920fs",
"transcript": "XM_047425543.1",
"protein_id": "XP_047281499.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 980,
"cds_start": 2758,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 3396,
"cdna_end": null,
"cdna_length": 7351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"hgvs_c": "c.2404delC",
"hgvs_p": "p.Gln802fs",
"transcript": "XM_011539979.2",
"protein_id": "XP_011538281.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 949,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZMIZ1",
"gene_hgnc_id": 16493,
"dbsnp": "rs777843533",
"frequency_reference_population": 0.00002338483,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000233848,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 3.565,
"phylop100way_prediction": "Benign",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000334512.10",
"gene_symbol": "ZMIZ1",
"hgnc_id": 16493,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2758delC",
"hgvs_p": "p.Gln920fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}