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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: 9-77721386-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=77721386&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 77721386,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_002072.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"hgvs_c": "c.1017T>C",
"hgvs_p": "p.Phe339Phe",
"transcript": "NM_002072.5",
"protein_id": "NP_002063.2",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 359,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286548.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002072.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"hgvs_c": "c.1017T>C",
"hgvs_p": "p.Phe339Phe",
"transcript": "ENST00000286548.9",
"protein_id": "ENSP00000286548.4",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 359,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002072.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286548.9"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"hgvs_c": "c.1092T>C",
"hgvs_p": "p.Phe364Phe",
"transcript": "ENST00000857199.1",
"protein_id": "ENSP00000527258.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 384,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857199.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"hgvs_c": "c.1017T>C",
"hgvs_p": "p.Phe339Phe",
"transcript": "ENST00000915940.1",
"protein_id": "ENSP00000585999.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 359,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915940.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"hgvs_c": "c.843T>C",
"hgvs_p": "p.Phe281Phe",
"transcript": "XM_047423239.1",
"protein_id": "XP_047279195.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 301,
"cds_start": 843,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423239.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"hgvs_c": "c.843T>C",
"hgvs_p": "p.Phe281Phe",
"transcript": "XM_047423240.1",
"protein_id": "XP_047279196.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 301,
"cds_start": 843,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423240.1"
}
],
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"dbsnp": "rs61736823",
"frequency_reference_population": 0.00015742508,
"hom_count_reference_population": 0,
"allele_count_reference_population": 254,
"gnomad_exomes_af": 0.000159412,
"gnomad_genomes_af": 0.000138298,
"gnomad_exomes_ac": 233,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"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": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.323,
"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": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002072.5",
"gene_symbol": "GNAQ",
"hgnc_id": 4390,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1017T>C",
"hgvs_p": "p.Phe339Phe"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}