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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: 1-1437053-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1437053&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1437053,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022834.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "NM_022834.5",
"protein_id": "NP_073745.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 445,
"cds_start": 200,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000476993.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022834.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp",
"transcript": "ENST00000476993.2",
"protein_id": "ENSP00000417185.1",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 445,
"cds_start": 200,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022834.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476993.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Gly64Asp",
"transcript": "ENST00000895635.1",
"protein_id": "ENSP00000565694.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 442,
"cds_start": 191,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895635.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Gly32Asp",
"transcript": "ENST00000495558.1",
"protein_id": "ENSP00000463643.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 166,
"cds_start": 95,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495558.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Gly107Asp",
"transcript": "ENST00000471398.1",
"protein_id": "ENSP00000464343.1",
"transcript_support_level": 3,
"aa_start": 107,
"aa_end": null,
"aa_length": 147,
"cds_start": 320,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471398.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.73+1232G>A",
"hgvs_p": null,
"transcript": "ENST00000895634.1",
"protein_id": "ENSP00000565693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": null,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895634.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.74-269G>A",
"hgvs_p": null,
"transcript": "NM_199121.3",
"protein_id": "NP_954572.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199121.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.74-269G>A",
"hgvs_p": null,
"transcript": "ENST00000338660.5",
"protein_id": "ENSP00000423404.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338660.5"
}
],
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"dbsnp": "rs542170050",
"frequency_reference_population": 0.00003475692,
"hom_count_reference_population": 0,
"allele_count_reference_population": 56,
"gnomad_exomes_af": 0.0000308467,
"gnomad_genomes_af": 0.0000721955,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4045591652393341,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.619,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.076,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.606,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_022834.5",
"gene_symbol": "VWA1",
"hgnc_id": 30910,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Asp"
}
],
"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
}