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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: 1-244054891-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244054891&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 244054891,
"ref": "AG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000358704.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.1118delG",
"hgvs_p": "p.Ser373fs",
"transcript": "NM_205768.3",
"protein_id": "NP_991331.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 531,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": "ENST00000358704.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.1118delG",
"hgvs_p": "p.Ser373fs",
"transcript": "ENST00000358704.4",
"protein_id": "ENSP00000351539.4",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 531,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": "NM_205768.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.1091delG",
"hgvs_p": "p.Ser364fs",
"transcript": "NM_001278196.2",
"protein_id": "NP_001265125.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 522,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.1091delG",
"hgvs_p": "p.Ser364fs",
"transcript": "NM_006352.5",
"protein_id": "NP_006343.2",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 522,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 3982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.1091delG",
"hgvs_p": "p.Ser364fs",
"transcript": "ENST00000622512.1",
"protein_id": "ENSP00000481278.1",
"transcript_support_level": 3,
"aa_start": 364,
"aa_end": null,
"aa_length": 522,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 3740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.1091delG",
"hgvs_p": "p.Ser364fs",
"transcript": "ENST00000696616.1",
"protein_id": "ENSP00000512756.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 522,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 3808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.1091delG",
"hgvs_p": "p.Ser364fs",
"transcript": "ENST00000696618.1",
"protein_id": "ENSP00000512758.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 522,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.1091delG",
"hgvs_p": "p.Ser364fs",
"transcript": "XM_005273006.3",
"protein_id": "XP_005273063.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 522,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 3881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.1091delG",
"hgvs_p": "p.Ser364fs",
"transcript": "XM_017000060.2",
"protein_id": "XP_016855549.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 522,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 3952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.1091delG",
"hgvs_p": "p.Ser364fs",
"transcript": "XM_047430908.1",
"protein_id": "XP_047286864.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 522,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.1091delG",
"hgvs_p": "p.Ser364fs",
"transcript": "XM_047430924.1",
"protein_id": "XP_047286880.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 522,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.1091delG",
"hgvs_p": "p.Ser364fs",
"transcript": "XM_047430955.1",
"protein_id": "XP_047286911.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 522,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.*295delG",
"hgvs_p": null,
"transcript": "NM_001421566.1",
"protein_id": "NP_001408495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.*295delG",
"hgvs_p": null,
"transcript": "ENST00000696615.1",
"protein_id": "ENSP00000512755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": -4,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"hgvs_c": "c.*1048delG",
"hgvs_p": null,
"transcript": "ENST00000696617.1",
"protein_id": "ENSP00000512757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": -4,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZBTB18",
"gene_hgnc_id": 13030,
"dbsnp": "rs875989785",
"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": 6.536,
"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": 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": "ENST00000358704.4",
"gene_symbol": "ZBTB18",
"hgnc_id": 13030,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1118delG",
"hgvs_p": "p.Ser373fs"
}
],
"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
}