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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: 4-69934693-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=69934693&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 69934693,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001890.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Pro30Ser",
"transcript": "NM_001890.2",
"protein_id": "NP_001881.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 185,
"cds_start": 88,
"cds_end": null,
"cds_length": 558,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 998,
"mane_select": "ENST00000246891.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Pro30Ser",
"transcript": "ENST00000246891.9",
"protein_id": "ENSP00000246891.4",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 185,
"cds_start": 88,
"cds_end": null,
"cds_length": 558,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 998,
"mane_select": "NM_001890.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Pro30Ser",
"transcript": "ENST00000507772.5",
"protein_id": "ENSP00000427490.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 177,
"cds_start": 88,
"cds_end": null,
"cds_length": 534,
"cdna_start": 88,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Pro30Ser",
"transcript": "NM_001025104.2",
"protein_id": "NP_001020275.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 176,
"cds_start": 88,
"cds_end": null,
"cds_length": 531,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Pro30Ser",
"transcript": "ENST00000507763.5",
"protein_id": "ENSP00000422611.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 176,
"cds_start": 88,
"cds_end": null,
"cds_length": 531,
"cdna_start": 99,
"cdna_end": null,
"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Pro30Ser",
"transcript": "ENST00000505782.5",
"protein_id": "ENSP00000426684.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 169,
"cds_start": 88,
"cds_end": null,
"cds_length": 510,
"cdna_start": 88,
"cdna_end": null,
"cdna_length": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Pro30Ser",
"transcript": "XM_006714089.3",
"protein_id": "XP_006714152.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 184,
"cds_start": 88,
"cds_end": null,
"cds_length": 555,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Pro30Ser",
"transcript": "XM_006714090.3",
"protein_id": "XP_006714153.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 177,
"cds_start": 88,
"cds_end": null,
"cds_length": 534,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Pro30Ser",
"transcript": "XM_006714091.3",
"protein_id": "XP_006714154.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 176,
"cds_start": 88,
"cds_end": null,
"cds_length": 531,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CSN1S1",
"gene_hgnc_id": 2445,
"dbsnp": "rs372882247",
"frequency_reference_population": 0.000006866085,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000686609,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08579012751579285,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.0962,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.821,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001890.2",
"gene_symbol": "CSN1S1",
"hgnc_id": 2445,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Pro30Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}