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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: 22-36930752-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36930752&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 36930752,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001410827.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"transcript": "NM_000395.3",
"protein_id": "NP_000386.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 897,
"cds_start": 934,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000403662.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000395.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"transcript": "ENST00000403662.8",
"protein_id": "ENSP00000384053.3",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 897,
"cds_start": 934,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000395.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403662.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Asp318Asn",
"transcript": "ENST00000406230.5",
"protein_id": "ENSP00000385271.1",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 903,
"cds_start": 952,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406230.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"transcript": "ENST00000910856.1",
"protein_id": "ENSP00000580915.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 909,
"cds_start": 934,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910856.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Asp318Asn",
"transcript": "NM_001410827.1",
"protein_id": "NP_001397756.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 903,
"cds_start": 952,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410827.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"transcript": "ENST00000910857.1",
"protein_id": "ENSP00000580916.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 897,
"cds_start": 934,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910857.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Asp318Asn",
"transcript": "XM_011529903.3",
"protein_id": "XP_011528205.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 915,
"cds_start": 952,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529903.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"transcript": "XM_011529904.3",
"protein_id": "XP_011528206.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 909,
"cds_start": 934,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529904.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Asp189Asn",
"transcript": "XM_047441148.1",
"protein_id": "XP_047297104.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 786,
"cds_start": 565,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441148.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Asp318Asn",
"transcript": "XM_047441149.1",
"protein_id": "XP_047297105.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 517,
"cds_start": 952,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441149.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"transcript": "XM_047441150.1",
"protein_id": "XP_047297106.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 511,
"cds_start": 934,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441150.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"hgvs_c": "c.*8G>A",
"hgvs_p": null,
"transcript": "ENST00000421539.1",
"protein_id": "ENSP00000393585.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421539.1"
}
],
"gene_symbol": "CSF2RB",
"gene_hgnc_id": 2436,
"dbsnp": "rs117805308",
"frequency_reference_population": 0.016717372,
"hom_count_reference_population": 274,
"allele_count_reference_population": 26980,
"gnomad_exomes_af": 0.01714,
"gnomad_genomes_af": 0.0126591,
"gnomad_exomes_ac": 25053,
"gnomad_genomes_ac": 1927,
"gnomad_exomes_homalt": 260,
"gnomad_genomes_homalt": 14,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004304707050323486,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.0952,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.388,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001410827.1",
"gene_symbol": "CSF2RB",
"hgnc_id": 2436,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Asp318Asn"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}