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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: 5-97027755-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=97027755&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 97027755,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005575.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPEP",
"gene_hgnc_id": 6656,
"hgvs_c": "c.2887A>G",
"hgvs_p": "p.Ile963Val",
"transcript": "NM_005575.3",
"protein_id": "NP_005566.2",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2887,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000231368.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005575.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPEP",
"gene_hgnc_id": 6656,
"hgvs_c": "c.2887A>G",
"hgvs_p": "p.Ile963Val",
"transcript": "ENST00000231368.10",
"protein_id": "ENSP00000231368.5",
"transcript_support_level": 1,
"aa_start": 963,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2887,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005575.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000231368.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPEP",
"gene_hgnc_id": 6656,
"hgvs_c": "c.2845A>G",
"hgvs_p": "p.Ile949Val",
"transcript": "ENST00000395770.3",
"protein_id": "ENSP00000379117.3",
"transcript_support_level": 1,
"aa_start": 949,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2845,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395770.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPEP",
"gene_hgnc_id": 6656,
"hgvs_c": "c.2884A>G",
"hgvs_p": "p.Ile962Val",
"transcript": "ENST00000930837.1",
"protein_id": "ENSP00000600896.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2884,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930837.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPEP",
"gene_hgnc_id": 6656,
"hgvs_c": "c.2845A>G",
"hgvs_p": "p.Ile949Val",
"transcript": "NM_175920.4",
"protein_id": "NP_787116.2",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2845,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175920.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPEP",
"gene_hgnc_id": 6656,
"hgvs_c": "c.2584A>G",
"hgvs_p": "p.Ile862Val",
"transcript": "ENST00000882743.1",
"protein_id": "ENSP00000552802.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 924,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882743.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPEP",
"gene_hgnc_id": 6656,
"hgvs_c": "c.2584A>G",
"hgvs_p": "p.Ile862Val",
"transcript": "XM_047417177.1",
"protein_id": "XP_047273133.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 924,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417177.1"
}
],
"gene_symbol": "LNPEP",
"gene_hgnc_id": 6656,
"dbsnp": "rs11746232",
"frequency_reference_population": 0.0926753,
"hom_count_reference_population": 7823,
"allele_count_reference_population": 148742,
"gnomad_exomes_af": 0.0942327,
"gnomad_genomes_af": 0.0778182,
"gnomad_exomes_ac": 136892,
"gnomad_genomes_ac": 11850,
"gnomad_exomes_homalt": 7254,
"gnomad_genomes_homalt": 569,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001950591802597046,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.0944,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.576,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_005575.3",
"gene_symbol": "LNPEP",
"hgnc_id": 6656,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2887A>G",
"hgvs_p": "p.Ile963Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}