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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: 16-77284030-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=77284030&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADAMTS18",
"hgnc_id": 17110,
"hgvs_c": "c.3592G>A",
"hgvs_p": "p.Val1198Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_199355.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000260922",
"hgnc_id": null,
"hgvs_c": "n.74-5246C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000561672.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1871,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.48049259185791016,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1221,
"aa_ref": "V",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5833,
"cdna_start": 3931,
"cds_end": null,
"cds_length": 3666,
"cds_start": 3592,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_199355.4",
"gene_hgnc_id": 17110,
"gene_symbol": "ADAMTS18",
"hgvs_c": "c.3592G>A",
"hgvs_p": "p.Val1198Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000282849.10",
"protein_coding": true,
"protein_id": "NP_955387.1",
"strand": false,
"transcript": "NM_199355.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1221,
"aa_ref": "V",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5833,
"cdna_start": 3931,
"cds_end": null,
"cds_length": 3666,
"cds_start": 3592,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000282849.10",
"gene_hgnc_id": 17110,
"gene_symbol": "ADAMTS18",
"hgvs_c": "c.3592G>A",
"hgvs_p": "p.Val1198Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_199355.4",
"protein_coding": true,
"protein_id": "ENSP00000282849.5",
"strand": false,
"transcript": "ENST00000282849.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "V",
"aa_start": 1026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5837,
"cdna_start": 3935,
"cds_end": null,
"cds_length": 3150,
"cds_start": 3076,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001326358.2",
"gene_hgnc_id": 17110,
"gene_symbol": "ADAMTS18",
"hgvs_c": "c.3076G>A",
"hgvs_p": "p.Val1026Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313287.1",
"strand": false,
"transcript": "NM_001326358.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 978,
"aa_ref": "V",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4790,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 2937,
"cds_start": 2863,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047433672.1",
"gene_hgnc_id": 17110,
"gene_symbol": "ADAMTS18",
"hgvs_c": "c.2863G>A",
"hgvs_p": "p.Val955Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289628.1",
"strand": false,
"transcript": "XM_047433672.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 809,
"aa_ref": "V",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4362,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 2430,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047433673.1",
"gene_hgnc_id": 17110,
"gene_symbol": "ADAMTS18",
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Val786Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289629.1",
"strand": false,
"transcript": "XM_047433673.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 61,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 349,
"cdna_start": null,
"cds_end": null,
"cds_length": 186,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000562332.1",
"gene_hgnc_id": 17110,
"gene_symbol": "ADAMTS18",
"hgvs_c": "c.94+5234G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454368.1",
"strand": false,
"transcript": "ENST00000562332.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 652,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561672.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000260922",
"hgvs_c": "n.74-5246C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000561672.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs764872318",
"effect": "missense_variant",
"frequency_reference_population": 0.0000030982467,
"gene_hgnc_id": 17110,
"gene_symbol": "ADAMTS18",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000273646,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657575,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.48,
"pos": 77284030,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.332,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_199355.4"
}
]
}