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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: 1-161191212-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161191212&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161191212,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001320336.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.2440C>T",
"hgvs_p": "p.Pro814Ser",
"transcript": "NM_005099.6",
"protein_id": "NP_005090.3",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 837,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367996.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005099.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.2440C>T",
"hgvs_p": "p.Pro814Ser",
"transcript": "ENST00000367996.6",
"protein_id": "ENSP00000356975.4",
"transcript_support_level": 1,
"aa_start": 814,
"aa_end": null,
"aa_length": 837,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005099.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367996.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.2279C>T",
"hgvs_p": "p.Ser760Phe",
"transcript": "NM_001320336.3",
"protein_id": "NP_001307265.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 846,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320336.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.2446C>T",
"hgvs_p": "p.Pro816Ser",
"transcript": "ENST00000926274.1",
"protein_id": "ENSP00000596333.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 839,
"cds_start": 2446,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926274.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.2440C>T",
"hgvs_p": "p.Pro814Ser",
"transcript": "ENST00000926273.1",
"protein_id": "ENSP00000596332.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 837,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926273.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.2266C>T",
"hgvs_p": "p.Pro756Ser",
"transcript": "ENST00000960127.1",
"protein_id": "ENSP00000630186.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 779,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960127.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"hgvs_c": "c.2116C>T",
"hgvs_p": "p.Pro706Ser",
"transcript": "ENST00000960126.1",
"protein_id": "ENSP00000630185.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 729,
"cds_start": 2116,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960126.1"
}
],
"gene_symbol": "ADAMTS4",
"gene_hgnc_id": 220,
"dbsnp": null,
"frequency_reference_population": 6.855034e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85503e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1023772656917572,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.0765,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.423,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320336.3",
"gene_symbol": "ADAMTS4",
"hgnc_id": 220,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2279C>T",
"hgvs_p": "p.Ser760Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}