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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: 16-1447052-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1447052&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1447052,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000382745.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.2285G>C",
"hgvs_p": "p.Arg762Pro",
"transcript": "NM_001287.6",
"protein_id": "NP_001278.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 805,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": "ENST00000382745.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.2285G>C",
"hgvs_p": "p.Arg762Pro",
"transcript": "ENST00000382745.9",
"protein_id": "ENSP00000372193.4",
"transcript_support_level": 1,
"aa_start": 762,
"aa_end": null,
"aa_length": 805,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": "NM_001287.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.2285G>C",
"hgvs_p": "p.Arg762Pro",
"transcript": "ENST00000699947.1",
"protein_id": "ENSP00000514703.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 808,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.2213G>C",
"hgvs_p": "p.Arg738Pro",
"transcript": "NM_001114331.3",
"protein_id": "NP_001107803.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 781,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.2111G>C",
"hgvs_p": "p.Arg704Pro",
"transcript": "XM_011522354.2",
"protein_id": "XP_011520656.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 747,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.2214G>C",
"hgvs_p": "p.Pro738Pro",
"transcript": "ENST00000262318.12",
"protein_id": "ENSP00000262318.8",
"transcript_support_level": 5,
"aa_start": 738,
"aa_end": null,
"aa_length": 901,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "n.2354G>C",
"hgvs_p": null,
"transcript": "ENST00000563642.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "n.1320G>C",
"hgvs_p": null,
"transcript": "ENST00000565092.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "n.526G>C",
"hgvs_p": null,
"transcript": "ENST00000567836.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "n.*598G>C",
"hgvs_p": null,
"transcript": "ENST00000699948.1",
"protein_id": "ENSP00000514704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "n.*598G>C",
"hgvs_p": null,
"transcript": "ENST00000699948.1",
"protein_id": "ENSP00000514704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"dbsnp": "rs121434433",
"frequency_reference_population": 0.0000024960718,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000206833,
"gnomad_genomes_af": 0.00000657583,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.976990818977356,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.937,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9985,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.088,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000382745.9",
"gene_symbol": "CLCN7",
"hgnc_id": 2025,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.2285G>C",
"hgvs_p": "p.Arg762Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}