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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: 1-114713908-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=114713908&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 114713908,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002524.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAS",
"gene_hgnc_id": 7989,
"hgvs_c": "c.182A>G",
"hgvs_p": "p.Gln61Arg",
"transcript": "NM_002524.5",
"protein_id": "NP_002515.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 189,
"cds_start": 182,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369535.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002524.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAS",
"gene_hgnc_id": 7989,
"hgvs_c": "c.182A>G",
"hgvs_p": "p.Gln61Arg",
"transcript": "ENST00000369535.5",
"protein_id": "ENSP00000358548.4",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 189,
"cds_start": 182,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002524.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369535.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAS",
"gene_hgnc_id": 7989,
"hgvs_c": "c.182A>G",
"hgvs_p": "p.Gln61Arg",
"transcript": "ENST00000899430.1",
"protein_id": "ENSP00000569489.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 208,
"cds_start": 182,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899430.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAS",
"gene_hgnc_id": 7989,
"hgvs_c": "c.182A>G",
"hgvs_p": "p.Gln61Arg",
"transcript": "ENST00000931010.1",
"protein_id": "ENSP00000601069.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 189,
"cds_start": 182,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931010.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NRAS",
"gene_hgnc_id": 7989,
"hgvs_c": "c.111+2142A>G",
"hgvs_p": null,
"transcript": "ENST00000931009.1",
"protein_id": "ENSP00000601068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": null,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931009.1"
}
],
"gene_symbol": "NRAS",
"gene_hgnc_id": 7989,
"dbsnp": "rs11554290",
"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": 0.8764965534210205,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.888,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9912,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.911,
"phylop100way_prediction": "Pathogenic",
"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": 21,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 21,
"benign_score": 0,
"pathogenic_score": 21,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_002524.5",
"gene_symbol": "NRAS",
"hgnc_id": 7989,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.182A>G",
"hgvs_p": "p.Gln61Arg"
}
],
"clinvar_disease": " 2, nonmedullary,Colorectal cancer,Epidermal nevus,Large congenital melanocytic nevus,Linear nevus sebaceous syndrome,Neoplasm,Neurocutaneous melanocytosis,Nodal T-follicular helper cell lymphoma,Non-small cell lung carcinoma,Noonan syndrome 6,Thyroid cancer,Vascular malformation,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7 US:1",
"phenotype_combined": "Thyroid cancer, nonmedullary, 2|Epidermal nevus|Large congenital melanocytic nevus|Neurocutaneous melanocytosis|Non-small cell lung carcinoma|not provided|Linear nevus sebaceous syndrome|Noonan syndrome 6|Neoplasm|Colorectal cancer|Vascular malformation|Nodal T-follicular helper cell lymphoma",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}