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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: 16-85102326-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=85102326&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 85102326,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_198491.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR2",
"gene_hgnc_id": 24781,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Lys180Arg",
"transcript": "NM_198491.3",
"protein_id": "NP_940893.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 304,
"cds_start": 539,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000539556.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198491.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR2",
"gene_hgnc_id": 24781,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Lys180Arg",
"transcript": "ENST00000539556.6",
"protein_id": "ENSP00000443411.1",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 304,
"cds_start": 539,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198491.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539556.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR2",
"gene_hgnc_id": 24781,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Lys180Arg",
"transcript": "NM_001366920.1",
"protein_id": "NP_001353849.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 299,
"cds_start": 539,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366920.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR2",
"gene_hgnc_id": 24781,
"hgvs_c": "c.254A>G",
"hgvs_p": "p.Lys85Arg",
"transcript": "ENST00000618669.3",
"protein_id": "ENSP00000478373.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 204,
"cds_start": 254,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618669.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR2",
"gene_hgnc_id": 24781,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Lys180Arg",
"transcript": "XM_011523063.2",
"protein_id": "XP_011521365.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 304,
"cds_start": 539,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523063.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR2",
"gene_hgnc_id": 24781,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Lys180Arg",
"transcript": "XM_017023198.2",
"protein_id": "XP_016878687.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 277,
"cds_start": 539,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023198.2"
}
],
"gene_symbol": "CIBAR2",
"gene_hgnc_id": 24781,
"dbsnp": "rs375222323",
"frequency_reference_population": 0.00005072467,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000507247,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0523151159286499,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.06800000369548798,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.0695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.228,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000727077279591483,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_198491.3",
"gene_symbol": "CIBAR2",
"hgnc_id": 24781,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Lys180Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}