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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: 22-26616148-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=26616148&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 26616148,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_001887.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBB1",
"gene_hgnc_id": 2397,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Asn58fs",
"transcript": "NM_001887.4",
"protein_id": "NP_001878.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 252,
"cds_start": 171,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647684.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001887.4"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBB1",
"gene_hgnc_id": 2397,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Asn58fs",
"transcript": "ENST00000647684.1",
"protein_id": "ENSP00000497249.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 252,
"cds_start": 171,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001887.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647684.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBB1",
"gene_hgnc_id": 2397,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Asn58fs",
"transcript": "ENST00000872124.1",
"protein_id": "ENSP00000542183.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 252,
"cds_start": 171,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872124.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBB1",
"gene_hgnc_id": 2397,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Asn58fs",
"transcript": "ENST00000872125.1",
"protein_id": "ENSP00000542184.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 252,
"cds_start": 171,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872125.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBB1",
"gene_hgnc_id": 2397,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Asn58fs",
"transcript": "ENST00000872126.1",
"protein_id": "ENSP00000542185.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 252,
"cds_start": 171,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872126.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBB1",
"gene_hgnc_id": 2397,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Asn58fs",
"transcript": "ENST00000927864.1",
"protein_id": "ENSP00000597923.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 252,
"cds_start": 171,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927864.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBB1",
"gene_hgnc_id": 2397,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Asn58fs",
"transcript": "ENST00000927865.1",
"protein_id": "ENSP00000597924.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 252,
"cds_start": 171,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927865.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBB1",
"gene_hgnc_id": 2397,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Asn58fs",
"transcript": "ENST00000946726.1",
"protein_id": "ENSP00000616785.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 252,
"cds_start": 171,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946726.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBB1",
"gene_hgnc_id": 2397,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Asn58fs",
"transcript": "XM_011529899.4",
"protein_id": "XP_011528201.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 252,
"cds_start": 171,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529899.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CRYBA4",
"gene_hgnc_id": 2396,
"hgvs_c": "c.4-6434delC",
"hgvs_p": null,
"transcript": "XM_006724140.4",
"protein_id": "XP_006724203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724140.4"
}
],
"gene_symbol": "CRYBB1",
"gene_hgnc_id": 2397,
"dbsnp": "rs1064793935",
"frequency_reference_population": 0.0000012391113,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84089e-7,
"gnomad_genomes_af": 0.00000656763,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": -0.367,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001887.4",
"gene_symbol": "CRYBB1",
"hgnc_id": 2397,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.171delG",
"hgvs_p": "p.Asn58fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XM_006724140.4",
"gene_symbol": "CRYBA4",
"hgnc_id": 2396,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4-6434delC",
"hgvs_p": null
}
],
"clinvar_disease": "Cataract 17,Cataract 17 multiple types,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2",
"phenotype_combined": "Cataract 17 multiple types|not provided|Cataract 17",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}