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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: 4-186257283-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186257283&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 186257283,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000264690.11",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Cys548Tyr",
"transcript": "NM_000892.5",
"protein_id": "NP_000883.2",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 638,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": "ENST00000264690.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Cys548Tyr",
"transcript": "ENST00000264690.11",
"protein_id": "ENSP00000264690.6",
"transcript_support_level": 1,
"aa_start": 548,
"aa_end": null,
"aa_length": 638,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": "NM_000892.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290316",
"gene_hgnc_id": null,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Cys595Tyr",
"transcript": "ENST00000511608.5",
"protein_id": "ENSP00000426629.1",
"transcript_support_level": 5,
"aa_start": 595,
"aa_end": null,
"aa_length": 685,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "n.1704G>A",
"hgvs_p": null,
"transcript": "ENST00000511406.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Cys346Tyr",
"transcript": "NM_001318396.2",
"protein_id": "NP_001305325.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 436,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Cys559Tyr",
"transcript": "XM_011531930.3",
"protein_id": "XP_011530232.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 649,
"cds_start": 1676,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Cys559Tyr",
"transcript": "XM_017008181.2",
"protein_id": "XP_016863670.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 649,
"cds_start": 1676,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Cys548Tyr",
"transcript": "XM_047415661.1",
"protein_id": "XP_047271617.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 638,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 5499,
"cdna_end": null,
"cdna_length": 6032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Cys346Tyr",
"transcript": "XM_017008184.2",
"protein_id": "XP_016863673.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 436,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1586-738G>A",
"hgvs_p": null,
"transcript": "NM_001440521.1",
"protein_id": "NP_001427450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": -4,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1472-738G>A",
"hgvs_p": null,
"transcript": "NM_001318394.2",
"protein_id": "NP_001305323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1472-738G>A",
"hgvs_p": null,
"transcript": "ENST00000513864.2",
"protein_id": "ENSP00000424469.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"hgvs_c": "c.1619-738G>A",
"hgvs_p": null,
"transcript": "XM_017008182.2",
"protein_id": "XP_016863671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 563,
"cds_start": -4,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310034",
"gene_hgnc_id": null,
"hgvs_c": "n.*144C>T",
"hgvs_p": null,
"transcript": "ENST00000846704.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KLKB1",
"gene_hgnc_id": 6371,
"dbsnp": "rs121964951",
"frequency_reference_population": 0.00072583614,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1163,
"gnomad_exomes_af": 0.000747415,
"gnomad_genomes_af": 0.00051988,
"gnomad_exomes_ac": 1084,
"gnomad_genomes_ac": 79,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9068455696105957,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.965,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9757,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.573,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5,BS1_Supporting",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PP3_Moderate",
"PP5",
"BS1_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000264690.11",
"gene_symbol": "KLKB1",
"hgnc_id": 6371,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Cys548Tyr"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000511608.5",
"gene_symbol": "ENSG00000290316",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Cys595Tyr"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000846704.1",
"gene_symbol": "ENSG00000310034",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*144C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inherited prekallikrein deficiency,Prekallikrein deficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Prekallikrein deficiency|not provided|Inherited prekallikrein deficiency",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}