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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: 2-27242740-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27242740&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27242740,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004341.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.6343G>C",
"hgvs_p": "p.Val2115Leu",
"transcript": "NM_004341.5",
"protein_id": "NP_004332.2",
"transcript_support_level": null,
"aa_start": 2115,
"aa_end": null,
"aa_length": 2225,
"cds_start": 6343,
"cds_end": null,
"cds_length": 6678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264705.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004341.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.6343G>C",
"hgvs_p": "p.Val2115Leu",
"transcript": "ENST00000264705.9",
"protein_id": "ENSP00000264705.3",
"transcript_support_level": 1,
"aa_start": 2115,
"aa_end": null,
"aa_length": 2225,
"cds_start": 6343,
"cds_end": null,
"cds_length": 6678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004341.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264705.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.6154G>C",
"hgvs_p": "p.Val2052Leu",
"transcript": "ENST00000403525.5",
"protein_id": "ENSP00000384510.1",
"transcript_support_level": 1,
"aa_start": 2052,
"aa_end": null,
"aa_length": 2162,
"cds_start": 6154,
"cds_end": null,
"cds_length": 6489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403525.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.6463G>C",
"hgvs_p": "p.Val2155Leu",
"transcript": "ENST00000854433.1",
"protein_id": "ENSP00000524492.1",
"transcript_support_level": null,
"aa_start": 2155,
"aa_end": null,
"aa_length": 2265,
"cds_start": 6463,
"cds_end": null,
"cds_length": 6798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854433.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.6238G>C",
"hgvs_p": "p.Val2080Leu",
"transcript": "ENST00000912693.1",
"protein_id": "ENSP00000582752.1",
"transcript_support_level": null,
"aa_start": 2080,
"aa_end": null,
"aa_length": 2190,
"cds_start": 6238,
"cds_end": null,
"cds_length": 6573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912693.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.6154G>C",
"hgvs_p": "p.Val2052Leu",
"transcript": "NM_001306079.2",
"protein_id": "NP_001293008.1",
"transcript_support_level": null,
"aa_start": 2052,
"aa_end": null,
"aa_length": 2162,
"cds_start": 6154,
"cds_end": null,
"cds_length": 6489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306079.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.448G>C",
"hgvs_p": "p.Val150Leu",
"transcript": "ENST00000428460.1",
"protein_id": "ENSP00000405416.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 292,
"cds_start": 448,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428460.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.6394G>C",
"hgvs_p": "p.Val2132Leu",
"transcript": "XM_047445803.1",
"protein_id": "XP_047301759.1",
"transcript_support_level": null,
"aa_start": 2132,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6394,
"cds_end": null,
"cds_length": 6729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445803.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.6205G>C",
"hgvs_p": "p.Val2069Leu",
"transcript": "XM_006712101.4",
"protein_id": "XP_006712164.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2179,
"cds_start": 6205,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712101.4"
}
],
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"dbsnp": "rs61737365",
"frequency_reference_population": 0.008928416,
"hom_count_reference_population": 85,
"allele_count_reference_population": 14412,
"gnomad_exomes_af": 0.00928007,
"gnomad_genomes_af": 0.00555373,
"gnomad_exomes_ac": 13566,
"gnomad_genomes_ac": 846,
"gnomad_exomes_homalt": 85,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010230600833892822,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.544,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3012,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.822,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004341.5",
"gene_symbol": "CAD",
"hgnc_id": 1424,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6343G>C",
"hgvs_p": "p.Val2115Leu"
}
],
"clinvar_disease": " 50,CAD-related disorder,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "not provided|CAD-related disorder|Developmental and epileptic encephalopathy, 50",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}