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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: 11-60873214-TCCATTTTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=60873214&ref=TCCATTTTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 60873214,
"ref": "TCCATTTTC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_207341.4",
"consequences": [
{
"aa_ref": "IFP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZP1",
"gene_hgnc_id": 13187,
"hgvs_c": "c.1169_1176delTTTTCCCA",
"hgvs_p": "p.Ile390fs",
"transcript": "NM_207341.4",
"protein_id": "NP_997224.2",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 638,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278853.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207341.4"
},
{
"aa_ref": "IFP",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZP1",
"gene_hgnc_id": 13187,
"hgvs_c": "c.1169_1176delTTTTCCCA",
"hgvs_p": "p.Ile390fs",
"transcript": "ENST00000278853.10",
"protein_id": "ENSP00000278853.5",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 638,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207341.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278853.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZP1",
"gene_hgnc_id": 13187,
"hgvs_c": "n.788_795delTTTTCCCA",
"hgvs_p": null,
"transcript": "ENST00000537203.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000537203.5"
},
{
"aa_ref": "IFP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZP1",
"gene_hgnc_id": 13187,
"hgvs_c": "c.290_297delTTTTCCCA",
"hgvs_p": "p.Ile97fs",
"transcript": "NM_001391943.1",
"protein_id": "NP_001378872.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 345,
"cds_start": 290,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391943.1"
},
{
"aa_ref": "IFP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZP1",
"gene_hgnc_id": 13187,
"hgvs_c": "c.290_297delTTTTCCCA",
"hgvs_p": "p.Ile97fs",
"transcript": "XM_011544852.3",
"protein_id": "XP_011543154.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 345,
"cds_start": 290,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544852.3"
},
{
"aa_ref": "IFP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZP1",
"gene_hgnc_id": 13187,
"hgvs_c": "c.290_297delTTTTCCCA",
"hgvs_p": "p.Ile97fs",
"transcript": "XM_011544853.3",
"protein_id": "XP_011543155.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 345,
"cds_start": 290,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544853.3"
},
{
"aa_ref": "IFP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZP1",
"gene_hgnc_id": 13187,
"hgvs_c": "c.146_153delTTTTCCCA",
"hgvs_p": "p.Ile49fs",
"transcript": "XM_047426608.1",
"protein_id": "XP_047282564.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 297,
"cds_start": 146,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZP1",
"gene_hgnc_id": 13187,
"hgvs_c": "c.-26_-19delTTTTCCCA",
"hgvs_p": null,
"transcript": "NM_001391944.1",
"protein_id": "NP_001378873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391944.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZP1",
"gene_hgnc_id": 13187,
"hgvs_c": "c.-26_-19delTTTTCCCA",
"hgvs_p": null,
"transcript": "XM_047426609.1",
"protein_id": "XP_047282565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426609.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZP1",
"gene_hgnc_id": 13187,
"hgvs_c": "n.410_417delTTTTCCCA",
"hgvs_p": null,
"transcript": "ENST00000542971.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000542971.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZP1",
"gene_hgnc_id": 13187,
"hgvs_c": "n.94_101delTTTTCCCA",
"hgvs_p": null,
"transcript": "ENST00000543020.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000543020.1"
}
],
"gene_symbol": "ZP1",
"gene_hgnc_id": 13187,
"dbsnp": "rs587777362",
"frequency_reference_population": 0.000002747449,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000274745,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.274,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_207341.4",
"gene_symbol": "ZP1",
"hgnc_id": 13187,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1169_1176delTTTTCCCA",
"hgvs_p": "p.Ile390fs"
}
],
"clinvar_disease": "Female infertility due to zona pellucida defect",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Female infertility due to zona pellucida defect",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}