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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: 6-158977771-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=158977771&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 158977771,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000367069.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH3",
"gene_hgnc_id": 21054,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Glu342*",
"transcript": "NM_031924.8",
"protein_id": "NP_114130.4",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 418,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 6576,
"mane_select": "ENST00000367069.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH3",
"gene_hgnc_id": 21054,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Glu342*",
"transcript": "ENST00000367069.7",
"protein_id": "ENSP00000356036.1",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 418,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 6576,
"mane_select": "NM_031924.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH3",
"gene_hgnc_id": 21054,
"hgvs_c": "c.1162G>T",
"hgvs_p": "p.Glu388*",
"transcript": "NM_001346418.1",
"protein_id": "NP_001333347.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 464,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 6273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH3",
"gene_hgnc_id": 21054,
"hgvs_c": "c.736G>T",
"hgvs_p": "p.Glu246*",
"transcript": "ENST00000449822.6",
"protein_id": "ENSP00000393195.1",
"transcript_support_level": 2,
"aa_start": 246,
"aa_end": null,
"aa_length": 322,
"cds_start": 736,
"cds_end": null,
"cds_length": 969,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 8654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH3",
"gene_hgnc_id": 21054,
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Glu212*",
"transcript": "XM_047419393.1",
"protein_id": "XP_047275349.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 288,
"cds_start": 634,
"cds_end": null,
"cds_length": 867,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 5644,
"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": "RSPH3",
"gene_hgnc_id": 21054,
"hgvs_c": "n.1661G>T",
"hgvs_p": null,
"transcript": "NR_144434.1",
"protein_id": null,
"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": 6227,
"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": "RSPH3",
"gene_hgnc_id": 21054,
"hgvs_c": "n.1676G>T",
"hgvs_p": null,
"transcript": "XR_001743668.3",
"protein_id": null,
"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": 11578,
"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": "RSPH3",
"gene_hgnc_id": 21054,
"hgvs_c": "n.1388G>T",
"hgvs_p": null,
"transcript": "XR_001743670.3",
"protein_id": null,
"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": 5954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RSPH3",
"gene_hgnc_id": 21054,
"dbsnp": "rs12204826",
"frequency_reference_population": 6.8406376e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84064e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2199999988079071,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.625,
"phylop100way_prediction": "Benign",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000367069.7",
"gene_symbol": "RSPH3",
"hgnc_id": 21054,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Glu342*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}