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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: 8-125067692-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=125067692&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 125067692,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000318410.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.1178G>T",
"hgvs_p": "p.Arg393Leu",
"transcript": "NM_014846.4",
"protein_id": "NP_055661.3",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1178,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": "ENST00000318410.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.1178G>T",
"hgvs_p": "p.Arg393Leu",
"transcript": "ENST00000318410.12",
"protein_id": "ENSP00000318016.7",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1178,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": "NM_014846.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.734G>T",
"hgvs_p": "p.Arg245Leu",
"transcript": "NM_001330609.2",
"protein_id": "NP_001317538.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 1011,
"cds_start": 734,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.734G>T",
"hgvs_p": "p.Arg245Leu",
"transcript": "ENST00000517845.5",
"protein_id": "ENSP00000429676.1",
"transcript_support_level": 2,
"aa_start": 245,
"aa_end": null,
"aa_length": 1011,
"cds_start": 734,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.1178G>T",
"hgvs_p": "p.Arg393Leu",
"transcript": "XM_047422502.1",
"protein_id": "XP_047278458.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1178,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.1178G>T",
"hgvs_p": "p.Arg393Leu",
"transcript": "XM_011517409.2",
"protein_id": "XP_011515711.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1095,
"cds_start": 1178,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 4342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.1178G>T",
"hgvs_p": "p.Arg393Leu",
"transcript": "XM_047422503.1",
"protein_id": "XP_047278459.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1095,
"cds_start": 1178,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 4737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"dbsnp": "rs151298198",
"frequency_reference_population": 6.841892e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84189e-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": 0.8564764261245728,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.873,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5774,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.12,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000318410.12",
"gene_symbol": "WASHC5",
"hgnc_id": 28984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1178G>T",
"hgvs_p": "p.Arg393Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}