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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: 22-36938238-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36938238&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 36938238,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000403662.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.2430C>A",
"hgvs_p": "p.Pro810Pro",
"transcript": "NM_000395.3",
"protein_id": "NP_000386.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 897,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": "ENST00000403662.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.2430C>A",
"hgvs_p": "p.Pro810Pro",
"transcript": "ENST00000403662.8",
"protein_id": "ENSP00000384053.3",
"transcript_support_level": 5,
"aa_start": 810,
"aa_end": null,
"aa_length": 897,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": "NM_000395.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.2448C>A",
"hgvs_p": "p.Pro816Pro",
"transcript": "ENST00000406230.5",
"protein_id": "ENSP00000385271.1",
"transcript_support_level": 1,
"aa_start": 816,
"aa_end": null,
"aa_length": 903,
"cds_start": 2448,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2522,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.2448C>A",
"hgvs_p": "p.Pro816Pro",
"transcript": "NM_001410827.1",
"protein_id": "NP_001397756.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 903,
"cds_start": 2448,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 4871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.2484C>A",
"hgvs_p": "p.Pro828Pro",
"transcript": "XM_011529903.3",
"protein_id": "XP_011528205.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 915,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.2466C>A",
"hgvs_p": "p.Pro822Pro",
"transcript": "XM_011529904.3",
"protein_id": "XP_011528206.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 909,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2688,
"cdna_end": null,
"cdna_length": 4889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.2097C>A",
"hgvs_p": "p.Pro699Pro",
"transcript": "XM_047441148.1",
"protein_id": "XP_047297104.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 786,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 4423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.*790C>A",
"hgvs_p": null,
"transcript": "XM_047441149.1",
"protein_id": "XP_047297105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.*790C>A",
"hgvs_p": null,
"transcript": "XM_047441150.1",
"protein_id": "XP_047297106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": -4,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"dbsnp": "rs2228092",
"frequency_reference_population": 0.0081678275,
"hom_count_reference_population": 267,
"allele_count_reference_population": 13184,
"gnomad_exomes_af": 0.0072661,
"gnomad_genomes_af": 0.0168243,
"gnomad_exomes_ac": 10622,
"gnomad_genomes_ac": 2562,
"gnomad_exomes_homalt": 210,
"gnomad_genomes_homalt": 57,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.902,
"phylop100way_prediction": "Benign",
"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": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000403662.8",
"gene_symbol": "CSF2RB",
"hgnc_id": 2436,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2430C>A",
"hgvs_p": "p.Pro810Pro"
}
],
"clinvar_disease": "CSF2RB-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|not provided|CSF2RB-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}