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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: 9-77794572-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=77794572&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 77794572,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002072.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"hgvs_c": "c.626A>T",
"hgvs_p": "p.Gln209Leu",
"transcript": "NM_002072.5",
"protein_id": "NP_002063.2",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 359,
"cds_start": 626,
"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": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"hgvs_c": "c.626A>T",
"hgvs_p": "p.Gln209Leu",
"transcript": "ENST00000286548.9",
"protein_id": "ENSP00000286548.4",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 359,
"cds_start": 626,
"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": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"hgvs_c": "c.701A>T",
"hgvs_p": "p.Gln234Leu",
"transcript": "ENST00000857199.1",
"protein_id": "ENSP00000527258.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 384,
"cds_start": 701,
"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": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"hgvs_c": "c.626A>T",
"hgvs_p": "p.Gln209Leu",
"transcript": "ENST00000915940.1",
"protein_id": "ENSP00000585999.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 359,
"cds_start": 626,
"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": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Gln151Leu",
"transcript": "XM_047423239.1",
"protein_id": "XP_047279195.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 301,
"cds_start": 452,
"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": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAQ",
"gene_hgnc_id": 4390,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Gln151Leu",
"transcript": "XM_047423240.1",
"protein_id": "XP_047279196.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 301,
"cds_start": 452,
"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": "rs121913492",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9771352410316467,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.936,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9925,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_002072.5",
"gene_symbol": "GNAQ",
"hgnc_id": 4390,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.626A>T",
"hgvs_p": "p.Gln209Leu"
}
],
"clinvar_disease": "Sturge-Weber syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Sturge-Weber syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}