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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: 5-179113999-AT-CC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=179113999&ref=AT&alt=CC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ADAMTS2",
"hgnc_id": 218,
"hgvs_c": "c.3503_3504delATinsGG",
"hgvs_p": "p.His1168Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014244.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "H",
"aa_start": 1168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6783,
"cdna_start": 3637,
"cds_end": null,
"cds_length": 3636,
"cds_start": 3503,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014244.5",
"gene_hgnc_id": 218,
"gene_symbol": "ADAMTS2",
"hgvs_c": "c.3503_3504delATinsGG",
"hgvs_p": "p.His1168Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000251582.12",
"protein_coding": true,
"protein_id": "NP_055059.2",
"strand": false,
"transcript": "NM_014244.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "H",
"aa_start": 1168,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6783,
"cdna_start": 3637,
"cds_end": null,
"cds_length": 3636,
"cds_start": 3503,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000251582.12",
"gene_hgnc_id": 218,
"gene_symbol": "ADAMTS2",
"hgvs_c": "c.3503_3504delATinsGG",
"hgvs_p": "p.His1168Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014244.5",
"protein_coding": true,
"protein_id": "ENSP00000251582.7",
"strand": false,
"transcript": "ENST00000251582.12",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "H",
"aa_start": 1149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6716,
"cdna_start": 3570,
"cds_end": null,
"cds_length": 3579,
"cds_start": 3446,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957641.1",
"gene_hgnc_id": 218,
"gene_symbol": "ADAMTS2",
"hgvs_c": "c.3446_3447delATinsGG",
"hgvs_p": "p.His1149Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627700.1",
"strand": false,
"transcript": "ENST00000957641.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1046,
"aa_ref": "H",
"aa_start": 1003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6184,
"cdna_start": 3038,
"cds_end": null,
"cds_length": 3141,
"cds_start": 3008,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417895.1",
"gene_hgnc_id": 218,
"gene_symbol": "ADAMTS2",
"hgvs_c": "c.3008_3009delATinsGG",
"hgvs_p": "p.His1003Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273851.1",
"strand": false,
"transcript": "XM_047417895.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 917,
"aa_ref": "H",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16233,
"cdna_start": 13087,
"cds_end": null,
"cds_length": 2754,
"cds_start": 2621,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417896.1",
"gene_hgnc_id": 218,
"gene_symbol": "ADAMTS2",
"hgvs_c": "c.2621_2622delATinsGG",
"hgvs_p": "p.His874Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273852.1",
"strand": false,
"transcript": "XM_047417896.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 455,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000522937.1",
"gene_hgnc_id": 218,
"gene_symbol": "ADAMTS2",
"hgvs_c": "n.*64_*65delATinsGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000522937.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 218,
"gene_symbol": "ADAMTS2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.656,
"pos": 179113999,
"ref": "AT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_014244.5"
}
]
}