← Back to variant description
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: 9-21994152-AAGCGGCT-TCGTCTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=21994152&ref=AAGCGGCT&alt=TCGTCTA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 21994152,
"ref": "AAGCGGCT",
"alt": "TCGTCTA",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_058195.4",
"consequences": [
{
"aa_ref": "QPL",
"aa_alt": "LD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.173_180delAGCCGCTTinsTAGACGA",
"hgvs_p": "p.Gln58fs",
"transcript": "NM_058195.4",
"protein_id": "NP_478102.2",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 132,
"cds_start": 173,
"cds_end": null,
"cds_length": 399,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 1052,
"mane_select": null,
"mane_plus": "ENST00000579755.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "QPL",
"aa_alt": "LD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.173_180delAGCCGCTTinsTAGACGA",
"hgvs_p": "p.Gln58fs",
"transcript": "ENST00000579755.2",
"protein_id": "ENSP00000462950.1",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 132,
"cds_start": 173,
"cds_end": null,
"cds_length": 399,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 1052,
"mane_select": null,
"mane_plus": "NM_058195.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "QPL",
"aa_alt": "LD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.173_180delAGCCGCTTinsTAGACGA",
"hgvs_p": "p.Gln58fs",
"transcript": "ENST00000530628.2",
"protein_id": "ENSP00000432664.2",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 132,
"cds_start": 173,
"cds_end": null,
"cds_length": 399,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CDKN2B-AS1",
"gene_hgnc_id": 34341,
"hgvs_c": "n.14_21delAAGCGGCTinsTCGTCTA",
"hgvs_p": null,
"transcript": "ENST00000468603.7",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.-4+662_-4+669delAGCCGCTTinsTAGACGA",
"hgvs_p": null,
"transcript": "NM_001363763.2",
"protein_id": "NP_001350692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.-175-106_-175-99delAGCCGCTTinsTAGACGA",
"hgvs_p": null,
"transcript": "ENST00000494262.5",
"protein_id": "ENSP00000464952.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.-4+662_-4+669delAGCCGCTTinsTAGACGA",
"hgvs_p": null,
"transcript": "ENST00000498628.6",
"protein_id": "ENSP00000467857.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264545",
"gene_hgnc_id": null,
"hgvs_c": "n.461-35281_461-35274delAAGCGGCTinsTCGTCTA",
"hgvs_p": null,
"transcript": "ENST00000404796.3",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "n.54-91_54-84delAGCCGCTTinsTAGACGA",
"hgvs_p": null,
"transcript": "ENST00000470819.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.-4+388_-4+395delAGCCGCTTinsTAGACGA",
"hgvs_p": null,
"transcript": "XM_047422597.1",
"protein_id": "XP_047278553.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124902130",
"gene_hgnc_id": null,
"hgvs_c": "n.-131_-124delAGCCGCTTinsTAGACGA",
"hgvs_p": null,
"transcript": "XR_007061436.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"dbsnp": null,
"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": 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": 2.309,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_058195.4",
"gene_symbol": "CDKN2A",
"hgnc_id": 1787,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.173_180delAGCCGCTTinsTAGACGA",
"hgvs_p": "p.Gln58fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000468603.7",
"gene_symbol": "CDKN2B-AS1",
"hgnc_id": 34341,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.14_21delAAGCGGCTinsTCGTCTA",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000404796.3",
"gene_symbol": "ENSG00000264545",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.461-35281_461-35274delAAGCGGCTinsTCGTCTA",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007061436.1",
"gene_symbol": "LOC124902130",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-131_-124delAGCCGCTTinsTAGACGA",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}