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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: 19-18594338-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18594338&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18594338,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004750.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLF1",
"gene_hgnc_id": 2364,
"hgvs_c": "c.1121T>G",
"hgvs_p": "p.Leu374Arg",
"transcript": "NM_004750.5",
"protein_id": "NP_004741.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 422,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392386.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004750.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLF1",
"gene_hgnc_id": 2364,
"hgvs_c": "c.1121T>G",
"hgvs_p": "p.Leu374Arg",
"transcript": "ENST00000392386.8",
"protein_id": "ENSP00000376188.2",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 422,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004750.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392386.8"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLF1",
"gene_hgnc_id": 2364,
"hgvs_c": "c.1202T>G",
"hgvs_p": "p.Leu401Arg",
"transcript": "ENST00000928241.1",
"protein_id": "ENSP00000598300.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 449,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928241.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLF1",
"gene_hgnc_id": 2364,
"hgvs_c": "c.1187T>G",
"hgvs_p": "p.Leu396Arg",
"transcript": "ENST00000971859.1",
"protein_id": "ENSP00000641918.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 444,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971859.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLF1",
"gene_hgnc_id": 2364,
"hgvs_c": "c.1145T>G",
"hgvs_p": "p.Leu382Arg",
"transcript": "ENST00000971860.1",
"protein_id": "ENSP00000641919.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 430,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971860.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLF1",
"gene_hgnc_id": 2364,
"hgvs_c": "c.1121T>G",
"hgvs_p": "p.Leu374Arg",
"transcript": "ENST00000684169.1",
"protein_id": "ENSP00000506849.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 426,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684169.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLF1",
"gene_hgnc_id": 2364,
"hgvs_c": "c.1121T>G",
"hgvs_p": "p.Leu374Arg",
"transcript": "ENST00000971858.1",
"protein_id": "ENSP00000641917.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 422,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLF1",
"gene_hgnc_id": 2364,
"hgvs_c": "n.98T>G",
"hgvs_p": null,
"transcript": "ENST00000594325.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000594325.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLF1",
"gene_hgnc_id": 2364,
"hgvs_c": "c.*24T>G",
"hgvs_p": null,
"transcript": "ENST00000597131.1",
"protein_id": "ENSP00000470625.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRLF1",
"gene_hgnc_id": 2364,
"hgvs_c": "n.-204T>G",
"hgvs_p": null,
"transcript": "ENST00000596360.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000596360.1"
}
],
"gene_symbol": "CRLF1",
"gene_hgnc_id": 2364,
"dbsnp": "rs104894668",
"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": 0.6235894560813904,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.615,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8638,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.191,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004750.5",
"gene_symbol": "CRLF1",
"hgnc_id": 2364,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1121T>G",
"hgvs_p": "p.Leu374Arg"
}
],
"clinvar_disease": "Cold-induced sweating syndrome 1",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Cold-induced sweating syndrome 1",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}