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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: 19-18596918-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18596918&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "CRLF1",
"hgnc_id": 2364,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Arg277*",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_004750.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Cold-induced sweating syndrome 1",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5099999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1269,
"cds_start": 829,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004750.5",
"gene_hgnc_id": 2364,
"gene_symbol": "CRLF1",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Arg277*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392386.8",
"protein_coding": true,
"protein_id": "NP_004741.1",
"strand": false,
"transcript": "NM_004750.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1269,
"cds_start": 829,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000392386.8",
"gene_hgnc_id": 2364,
"gene_symbol": "CRLF1",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Arg277*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004750.5",
"protein_coding": true,
"protein_id": "ENSP00000376188.2",
"strand": false,
"transcript": "ENST00000392386.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 449,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1350,
"cds_start": 910,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000928241.1",
"gene_hgnc_id": 2364,
"gene_symbol": "CRLF1",
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598300.1",
"strand": false,
"transcript": "ENST00000928241.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 444,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1335,
"cds_start": 895,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971859.1",
"gene_hgnc_id": 2364,
"gene_symbol": "CRLF1",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641918.1",
"strand": false,
"transcript": "ENST00000971859.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 430,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1293,
"cds_start": 895,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971860.1",
"gene_hgnc_id": 2364,
"gene_symbol": "CRLF1",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641919.1",
"strand": false,
"transcript": "ENST00000971860.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1746,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1281,
"cds_start": 829,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000684169.1",
"gene_hgnc_id": 2364,
"gene_symbol": "CRLF1",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Arg277*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506849.1",
"strand": false,
"transcript": "ENST00000684169.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1269,
"cds_start": 829,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971858.1",
"gene_hgnc_id": 2364,
"gene_symbol": "CRLF1",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Arg277*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641917.1",
"strand": false,
"transcript": "ENST00000971858.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 171,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 520,
"cdna_start": 294,
"cds_end": null,
"cds_length": 518,
"cds_start": 292,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000597131.1",
"gene_hgnc_id": 2364,
"gene_symbol": "CRLF1",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470625.1",
"strand": false,
"transcript": "ENST00000597131.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs137853145",
"effect": "stop_gained",
"frequency_reference_population": 0.0000013681444,
"gene_hgnc_id": 2364,
"gene_symbol": "CRLF1",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136814,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Cold-induced sweating syndrome 1",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.759,
"pos": 18596918,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004750.5"
}
]
}