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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: 16-89919756-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89919756&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89919756,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000556922.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MC1R",
"gene_hgnc_id": 6929,
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Ala166Ala",
"transcript": "NM_002386.4",
"protein_id": "NP_002377.4",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 317,
"cds_start": 498,
"cds_end": null,
"cds_length": 954,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": "ENST00000555147.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MC1R",
"gene_hgnc_id": 6929,
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Ala166Ala",
"transcript": "ENST00000555147.2",
"protein_id": "ENSP00000451605.1",
"transcript_support_level": 6,
"aa_start": 166,
"aa_end": null,
"aa_length": 317,
"cds_start": 498,
"cds_end": null,
"cds_length": 954,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": "NM_002386.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000198211",
"gene_hgnc_id": null,
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Ala166Ala",
"transcript": "ENST00000556922.1",
"protein_id": "ENSP00000451560.1",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 797,
"cds_start": 498,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MC1R",
"gene_hgnc_id": 6929,
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Ala166Ala",
"transcript": "ENST00000555427.1",
"protein_id": "ENSP00000451760.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 382,
"cds_start": 498,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 2801,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MC1R",
"gene_hgnc_id": 6929,
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Ala166Ala",
"transcript": "ENST00000639847.1",
"protein_id": "ENSP00000492011.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 317,
"cds_start": 498,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259006",
"gene_hgnc_id": null,
"hgvs_c": "n.*71C>T",
"hgvs_p": null,
"transcript": "ENST00000554623.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENSG00000198211",
"gene_hgnc_id": null,
"dbsnp": "rs374959395",
"frequency_reference_population": 0.00008145439,
"hom_count_reference_population": 0,
"allele_count_reference_population": 131,
"gnomad_exomes_af": 0.0000824152,
"gnomad_genomes_af": 0.0000722638,
"gnomad_exomes_ac": 120,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.267,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000556922.1",
"gene_symbol": "ENSG00000198211",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Ala166Ala"
},
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000555147.2",
"gene_symbol": "MC1R",
"hgnc_id": 6929,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Ala166Ala"
},
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000554623.1",
"gene_symbol": "ENSG00000259006",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*71C>T",
"hgvs_p": null
}
],
"clinvar_disease": " 5, cutaneous malignant, susceptibility to,Melanoma,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Melanoma, cutaneous malignant, susceptibility to, 5|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}