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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: 16-3015490-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3015490&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLDN6",
"hgnc_id": 2048,
"hgvs_c": "c.532G>C",
"hgvs_p": "p.Gly178Arg",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_021195.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.9757,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.56,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9489278793334961,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1366,
"cdna_start": 588,
"cds_end": null,
"cds_length": 663,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_021195.5",
"gene_hgnc_id": 2048,
"gene_symbol": "CLDN6",
"hgvs_c": "c.532G>C",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000328796.5",
"protein_coding": true,
"protein_id": "NP_067018.2",
"strand": false,
"transcript": "NM_021195.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1366,
"cdna_start": 588,
"cds_end": null,
"cds_length": 663,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000328796.5",
"gene_hgnc_id": 2048,
"gene_symbol": "CLDN6",
"hgvs_c": "c.532G>C",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021195.5",
"protein_coding": true,
"protein_id": "ENSP00000328674.4",
"strand": false,
"transcript": "ENST00000328796.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1739,
"cdna_start": 961,
"cds_end": null,
"cds_length": 663,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000396925.1",
"gene_hgnc_id": 2048,
"gene_symbol": "CLDN6",
"hgvs_c": "c.532G>C",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380131.1",
"strand": false,
"transcript": "ENST00000396925.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 678,
"cds_end": null,
"cds_length": 663,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939715.1",
"gene_hgnc_id": 2048,
"gene_symbol": "CLDN6",
"hgvs_c": "c.532G>C",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609774.1",
"strand": false,
"transcript": "ENST00000939715.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1479,
"cdna_start": 701,
"cds_end": null,
"cds_length": 663,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939716.1",
"gene_hgnc_id": 2048,
"gene_symbol": "CLDN6",
"hgvs_c": "c.532G>C",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609775.1",
"strand": false,
"transcript": "ENST00000939716.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1400,
"cdna_start": 622,
"cds_end": null,
"cds_length": 663,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939717.1",
"gene_hgnc_id": 2048,
"gene_symbol": "CLDN6",
"hgvs_c": "c.532G>C",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609776.1",
"strand": false,
"transcript": "ENST00000939717.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 663,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939718.1",
"gene_hgnc_id": 2048,
"gene_symbol": "CLDN6",
"hgvs_c": "c.532G>C",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609777.1",
"strand": false,
"transcript": "ENST00000939718.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 880,
"cds_end": null,
"cds_length": 663,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939719.1",
"gene_hgnc_id": 2048,
"gene_symbol": "CLDN6",
"hgvs_c": "c.532G>C",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609778.1",
"strand": false,
"transcript": "ENST00000939719.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 39,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 461,
"cdna_start": null,
"cds_end": null,
"cds_length": 120,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000572154.1",
"gene_hgnc_id": 2048,
"gene_symbol": "CLDN6",
"hgvs_c": "c.94-309G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458783.1",
"strand": false,
"transcript": "ENST00000572154.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs768426941",
"effect": "missense_variant",
"frequency_reference_population": 0.000006213766,
"gene_hgnc_id": 2048,
"gene_symbol": "CLDN6",
"gnomad_exomes_ac": 7,
"gnomad_exomes_af": 0.000004804,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197094,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.116,
"pos": 3015490,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.919,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_021195.5"
}
]
}