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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: 19-50949006-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50949006&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "KLK5",
"hgnc_id": 6366,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_012427.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 31,
"alphamissense_prediction": null,
"alphamissense_score": 0.0932,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.042752981185913086,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1513,
"cdna_start": 748,
"cds_end": null,
"cds_length": 882,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_012427.5",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336334.8",
"protein_coding": true,
"protein_id": "NP_036559.1",
"strand": false,
"transcript": "NM_012427.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1513,
"cdna_start": 748,
"cds_end": null,
"cds_length": 882,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000336334.8",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012427.5",
"protein_coding": true,
"protein_id": "ENSP00000337733.2",
"strand": false,
"transcript": "ENST00000336334.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 640,
"cds_end": null,
"cds_length": 882,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000391809.6",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375685.1",
"strand": false,
"transcript": "ENST00000391809.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1365,
"cdna_start": 600,
"cds_end": null,
"cds_length": 882,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000593428.5",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471966.1",
"strand": false,
"transcript": "ENST00000593428.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1378,
"cdna_start": 613,
"cds_end": null,
"cds_length": 882,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001077491.2",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001070959.1",
"strand": false,
"transcript": "NM_001077491.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1310,
"cdna_start": 545,
"cds_end": null,
"cds_length": 882,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001077492.2",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001070960.1",
"strand": false,
"transcript": "NM_001077492.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1338,
"cdna_start": 573,
"cds_end": null,
"cds_length": 882,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860844.1",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530903.1",
"strand": false,
"transcript": "ENST00000860844.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": 678,
"cds_end": null,
"cds_length": 882,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860845.1",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530904.1",
"strand": false,
"transcript": "ENST00000860845.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1376,
"cdna_start": 607,
"cds_end": null,
"cds_length": 882,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860847.1",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530906.1",
"strand": false,
"transcript": "ENST00000860847.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1393,
"cdna_start": 628,
"cds_end": null,
"cds_length": 882,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860849.1",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530908.1",
"strand": false,
"transcript": "ENST00000860849.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": 810,
"cds_end": null,
"cds_length": 840,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860846.1",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530905.1",
"strand": false,
"transcript": "ENST00000860846.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1264,
"cdna_start": 544,
"cds_end": null,
"cds_length": 840,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860848.1",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530907.1",
"strand": false,
"transcript": "ENST00000860848.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 204,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 672,
"cdna_start": 501,
"cds_end": null,
"cds_length": 616,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000594846.1",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469439.1",
"strand": false,
"transcript": "ENST00000594846.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1324,
"cdna_start": 559,
"cds_end": null,
"cds_length": 882,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011526702.2",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525004.1",
"strand": false,
"transcript": "XM_011526702.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1392,
"cdna_start": 627,
"cds_end": null,
"cds_length": 882,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011526703.3",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525005.1",
"strand": false,
"transcript": "XM_011526703.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000595585.1",
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"hgvs_c": "n.456G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000595585.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs761551466",
"effect": "missense_variant",
"frequency_reference_population": 0.000019209987,
"gene_hgnc_id": 6366,
"gene_symbol": "KLK5",
"gnomad_exomes_ac": 30,
"gnomad_exomes_af": 0.0000205217,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000658432,
"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 specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.186,
"pos": 50949006,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.195,
"splice_prediction_selected": "Uncertain_significance",
"splice_score_selected": 0.23000000417232513,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.23,
"transcript": "NM_012427.5"
}
]
}