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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: 2-162384711-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=162384711&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 162384711,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_033272.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH7",
"gene_hgnc_id": 18863,
"hgvs_c": "c.2939A>G",
"hgvs_p": "p.Asp980Gly",
"transcript": "NM_033272.4",
"protein_id": "NP_150375.2",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2939,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3188,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": "ENST00000332142.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH7",
"gene_hgnc_id": 18863,
"hgvs_c": "c.2939A>G",
"hgvs_p": "p.Asp980Gly",
"transcript": "ENST00000332142.10",
"protein_id": "ENSP00000331727.5",
"transcript_support_level": 1,
"aa_start": 980,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2939,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3188,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": "NM_033272.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH7",
"gene_hgnc_id": 18863,
"hgvs_c": "c.2963A>G",
"hgvs_p": "p.Asp988Gly",
"transcript": "XM_011512109.4",
"protein_id": "XP_011510411.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1204,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 3212,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH7",
"gene_hgnc_id": 18863,
"hgvs_c": "c.2954A>G",
"hgvs_p": "p.Asp985Gly",
"transcript": "XM_017005218.3",
"protein_id": "XP_016860707.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1201,
"cds_start": 2954,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 3203,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH7",
"gene_hgnc_id": 18863,
"hgvs_c": "c.2930A>G",
"hgvs_p": "p.Asp977Gly",
"transcript": "XM_017005219.3",
"protein_id": "XP_016860708.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1193,
"cds_start": 2930,
"cds_end": null,
"cds_length": 3582,
"cdna_start": 3179,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH7",
"gene_hgnc_id": 18863,
"hgvs_c": "c.2918A>G",
"hgvs_p": "p.Asp973Gly",
"transcript": "XM_017005220.3",
"protein_id": "XP_016860709.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3167,
"cdna_end": null,
"cdna_length": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNH7",
"gene_hgnc_id": 18863,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1412714421749115,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4699999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.329,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0629,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.987,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.47,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033272.4",
"gene_symbol": "KCNH7",
"hgnc_id": 18863,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2939A>G",
"hgvs_p": "p.Asp980Gly"
}
],
"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
}