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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: 1-200975549-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200975549&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "KIF21B",
"hgnc_id": 29442,
"hgvs_c": "c.4564C>T",
"hgvs_p": "p.Arg1522*",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001252100.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1623,
"aa_ref": "R",
"aa_start": 1522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9334,
"cdna_start": 4895,
"cds_end": null,
"cds_length": 4872,
"cds_start": 4564,
"consequences": [
"stop_gained"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001252102.2",
"gene_hgnc_id": 29442,
"gene_symbol": "KIF21B",
"hgvs_c": "c.4564C>T",
"hgvs_p": "p.Arg1522*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000461742.7",
"protein_coding": true,
"protein_id": "NP_001239031.1",
"strand": false,
"transcript": "NM_001252102.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1623,
"aa_ref": "R",
"aa_start": 1522,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9334,
"cdna_start": 4895,
"cds_end": null,
"cds_length": 4872,
"cds_start": 4564,
"consequences": [
"stop_gained"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000461742.7",
"gene_hgnc_id": 29442,
"gene_symbol": "KIF21B",
"hgvs_c": "c.4564C>T",
"hgvs_p": "p.Arg1522*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001252102.2",
"protein_coding": true,
"protein_id": "ENSP00000433808.1",
"strand": false,
"transcript": "ENST00000461742.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1637,
"aa_ref": "R",
"aa_start": 1522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5519,
"cdna_start": 4881,
"cds_end": null,
"cds_length": 4914,
"cds_start": 4564,
"consequences": [
"stop_gained"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000422435.2",
"gene_hgnc_id": 29442,
"gene_symbol": "KIF21B",
"hgvs_c": "c.4564C>T",
"hgvs_p": "p.Arg1522*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411831.2",
"strand": false,
"transcript": "ENST00000422435.2",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1624,
"aa_ref": "R",
"aa_start": 1509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9897,
"cdna_start": 4842,
"cds_end": null,
"cds_length": 4875,
"cds_start": 4525,
"consequences": [
"stop_gained"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000332129.6",
"gene_hgnc_id": 29442,
"gene_symbol": "KIF21B",
"hgvs_c": "c.4525C>T",
"hgvs_p": "p.Arg1509*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000328494.2",
"strand": false,
"transcript": "ENST00000332129.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "R",
"aa_start": 1509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5389,
"cdna_start": 4550,
"cds_end": null,
"cds_length": 4833,
"cds_start": 4525,
"consequences": [
"stop_gained"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000360529.9",
"gene_hgnc_id": 29442,
"gene_symbol": "KIF21B",
"hgvs_c": "c.4525C>T",
"hgvs_p": "p.Arg1509*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353724.5",
"strand": false,
"transcript": "ENST00000360529.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1637,
"aa_ref": "R",
"aa_start": 1522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9950,
"cdna_start": 4895,
"cds_end": null,
"cds_length": 4914,
"cds_start": 4564,
"consequences": [
"stop_gained"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001252100.2",
"gene_hgnc_id": 29442,
"gene_symbol": "KIF21B",
"hgvs_c": "c.4564C>T",
"hgvs_p": "p.Arg1522*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001239029.1",
"strand": false,
"transcript": "NM_001252100.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1624,
"aa_ref": "R",
"aa_start": 1509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9911,
"cdna_start": 4856,
"cds_end": null,
"cds_length": 4875,
"cds_start": 4525,
"consequences": [
"stop_gained"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_017596.4",
"gene_hgnc_id": 29442,
"gene_symbol": "KIF21B",
"hgvs_c": "c.4525C>T",
"hgvs_p": "p.Arg1509*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060066.2",
"strand": false,
"transcript": "NM_017596.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "R",
"aa_start": 1509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9295,
"cdna_start": 4856,
"cds_end": null,
"cds_length": 4833,
"cds_start": 4525,
"consequences": [
"stop_gained"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001252103.2",
"gene_hgnc_id": 29442,
"gene_symbol": "KIF21B",
"hgvs_c": "c.4525C>T",
"hgvs_p": "p.Arg1509*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001239032.1",
"strand": false,
"transcript": "NM_001252103.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "R",
"aa_start": 1466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5168,
"cdna_start": 4727,
"cds_end": null,
"cds_length": 4746,
"cds_start": 4396,
"consequences": [
"stop_gained"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_017000731.2",
"gene_hgnc_id": 29442,
"gene_symbol": "KIF21B",
"hgvs_c": "c.4396C>T",
"hgvs_p": "p.Arg1466*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856220.1",
"strand": false,
"transcript": "XM_017000731.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "R",
"aa_start": 1121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3886,
"cdna_start": 3445,
"cds_end": null,
"cds_length": 3711,
"cds_start": 3361,
"consequences": [
"stop_gained"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_017000732.2",
"gene_hgnc_id": 29442,
"gene_symbol": "KIF21B",
"hgvs_c": "c.3361C>T",
"hgvs_p": "p.Arg1121*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856221.1",
"strand": false,
"transcript": "XM_017000732.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "R",
"aa_start": 949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 2997,
"cds_end": null,
"cds_length": 3195,
"cds_start": 2845,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047449818.1",
"gene_hgnc_id": 29442,
"gene_symbol": "KIF21B",
"hgvs_c": "c.2845C>T",
"hgvs_p": "p.Arg949*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305774.1",
"strand": false,
"transcript": "XM_047449818.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs769986420",
"effect": "stop_gained",
"frequency_reference_population": 0.000003718108,
"gene_hgnc_id": 29442,
"gene_symbol": "KIF21B",
"gnomad_exomes_ac": 5,
"gnomad_exomes_af": 0.00000342104,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657108,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.67,
"pos": 200975549,
"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_001252100.2"
}
]
}