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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: 21-45477816-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45477816&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 45477816,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000651438.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Gly358Arg",
"transcript": "NM_001379500.1",
"protein_id": "NP_001366429.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1339,
"cds_start": 1072,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": "ENST00000651438.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Gly358Arg",
"transcript": "ENST00000651438.1",
"protein_id": "ENSP00000498485.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1339,
"cds_start": 1072,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": "NM_001379500.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Gly538Arg",
"transcript": "ENST00000355480.10",
"protein_id": "ENSP00000347665.5",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 1519,
"cds_start": 1612,
"cds_end": null,
"cds_length": 4560,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2317G>C",
"hgvs_p": "p.Gly773Arg",
"transcript": "NM_130444.3",
"protein_id": "NP_569711.2",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 1754,
"cds_start": 2317,
"cds_end": null,
"cds_length": 5265,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 6596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2317G>C",
"hgvs_p": "p.Gly773Arg",
"transcript": "ENST00000359759.8",
"protein_id": "ENSP00000352798.4",
"transcript_support_level": 5,
"aa_start": 773,
"aa_end": null,
"aa_length": 1754,
"cds_start": 2317,
"cds_end": null,
"cds_length": 5265,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 6586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Gly538Arg",
"transcript": "NM_030582.4",
"protein_id": "NP_085059.2",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 1519,
"cds_start": 1612,
"cds_end": null,
"cds_length": 4560,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"dbsnp": "rs62000458",
"frequency_reference_population": 0.000005156068,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000428773,
"gnomad_genomes_af": 0.0000131382,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4493279755115509,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.209,
"revel_prediction": "Benign",
"alphamissense_score": 0.2924,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.508,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651438.1",
"gene_symbol": "COL18A1",
"hgnc_id": 2195,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Gly358Arg"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}