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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: 17-75501817-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75501817&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CASKIN2",
"hgnc_id": 18200,
"hgvs_c": "c.3257C>T",
"hgvs_p": "p.Pro1086Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_020753.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 31,
"alphamissense_prediction": null,
"alphamissense_score": 0.0665,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "17",
"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": 0.05226406455039978,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1202,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4969,
"cdna_start": 3798,
"cds_end": null,
"cds_length": 3609,
"cds_start": 3257,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_020753.5",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3257C>T",
"hgvs_p": "p.Pro1086Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000321617.8",
"protein_coding": true,
"protein_id": "NP_065804.2",
"strand": false,
"transcript": "NM_020753.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1202,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4969,
"cdna_start": 3798,
"cds_end": null,
"cds_length": 3609,
"cds_start": 3257,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000321617.8",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3257C>T",
"hgvs_p": "p.Pro1086Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020753.5",
"protein_coding": true,
"protein_id": "ENSP00000325355.3",
"strand": false,
"transcript": "ENST00000321617.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "P",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4966,
"cdna_start": 3795,
"cds_end": null,
"cds_length": 3672,
"cds_start": 3320,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000861913.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3320C>T",
"hgvs_p": "p.Pro1107Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531972.1",
"strand": false,
"transcript": "ENST00000861913.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "P",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4844,
"cdna_start": 3842,
"cds_end": null,
"cds_length": 3672,
"cds_start": 3320,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000861914.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3320C>T",
"hgvs_p": "p.Pro1107Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531973.1",
"strand": false,
"transcript": "ENST00000861914.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4930,
"cdna_start": 3738,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3257,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000913139.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3257C>T",
"hgvs_p": "p.Pro1086Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583198.1",
"strand": false,
"transcript": "ENST00000913139.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1202,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 3924,
"cds_end": null,
"cds_length": 3609,
"cds_start": 3257,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000861906.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3257C>T",
"hgvs_p": "p.Pro1086Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531965.1",
"strand": false,
"transcript": "ENST00000861906.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1202,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5057,
"cdna_start": 3886,
"cds_end": null,
"cds_length": 3609,
"cds_start": 3257,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000861909.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3257C>T",
"hgvs_p": "p.Pro1086Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531968.1",
"strand": false,
"transcript": "ENST00000861909.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1202,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 3849,
"cds_end": null,
"cds_length": 3609,
"cds_start": 3257,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000913141.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3257C>T",
"hgvs_p": "p.Pro1086Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583200.1",
"strand": false,
"transcript": "ENST00000913141.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "P",
"aa_start": 1085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4906,
"cdna_start": 3735,
"cds_end": null,
"cds_length": 3606,
"cds_start": 3254,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000861910.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3254C>T",
"hgvs_p": "p.Pro1085Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531969.1",
"strand": false,
"transcript": "ENST00000861910.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "P",
"aa_start": 1085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4906,
"cdna_start": 3735,
"cds_end": null,
"cds_length": 3606,
"cds_start": 3254,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000861911.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3254C>T",
"hgvs_p": "p.Pro1085Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531970.1",
"strand": false,
"transcript": "ENST00000861911.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "P",
"aa_start": 1085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4974,
"cdna_start": 3804,
"cds_end": null,
"cds_length": 3606,
"cds_start": 3254,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000913138.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3254C>T",
"hgvs_p": "p.Pro1085Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583197.1",
"strand": false,
"transcript": "ENST00000913138.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1199,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4977,
"cdna_start": 3818,
"cds_end": null,
"cds_length": 3600,
"cds_start": 3257,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000861907.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3257C>T",
"hgvs_p": "p.Pro1086Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531966.1",
"strand": false,
"transcript": "ENST00000861907.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1199,
"aa_ref": "P",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 3750,
"cds_end": null,
"cds_length": 3600,
"cds_start": 3248,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000861908.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3248C>T",
"hgvs_p": "p.Pro1083Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531967.1",
"strand": false,
"transcript": "ENST00000861908.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "P",
"aa_start": 1080,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4863,
"cdna_start": 3695,
"cds_end": null,
"cds_length": 3591,
"cds_start": 3239,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000913140.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3239C>T",
"hgvs_p": "p.Pro1080Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583199.1",
"strand": false,
"transcript": "ENST00000913140.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1120,
"aa_ref": "P",
"aa_start": 1004,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4500,
"cdna_start": 3329,
"cds_end": null,
"cds_length": 3363,
"cds_start": 3011,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001142643.3",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3011C>T",
"hgvs_p": "p.Pro1004Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136115.1",
"strand": false,
"transcript": "NM_001142643.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1120,
"aa_ref": "P",
"aa_start": 1004,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": 3327,
"cds_end": null,
"cds_length": 3363,
"cds_start": 3011,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000433559.6",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3011C>T",
"hgvs_p": "p.Pro1004Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406963.2",
"strand": false,
"transcript": "ENST00000433559.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1095,
"aa_ref": "P",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4273,
"cdna_start": 3104,
"cds_end": null,
"cds_length": 3288,
"cds_start": 2936,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000861915.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.2936C>T",
"hgvs_p": "p.Pro979Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531974.1",
"strand": false,
"transcript": "ENST00000861915.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1074,
"aa_ref": "P",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4549,
"cdna_start": 3380,
"cds_end": null,
"cds_length": 3225,
"cds_start": 2873,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000861912.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.2873C>T",
"hgvs_p": "p.Pro958Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531971.1",
"strand": false,
"transcript": "ENST00000861912.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1202,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5011,
"cdna_start": 3840,
"cds_end": null,
"cds_length": 3609,
"cds_start": 3257,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436459.1",
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"hgvs_c": "c.3257C>T",
"hgvs_p": "p.Pro1086Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292415.1",
"strand": false,
"transcript": "XM_047436459.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs199651519",
"effect": "missense_variant",
"frequency_reference_population": 0.000020018055,
"gene_hgnc_id": 18200,
"gene_symbol": "CASKIN2",
"gnomad_exomes_ac": 21,
"gnomad_exomes_af": 0.00001504,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 10,
"gnomad_genomes_af": 0.0000656504,
"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": -0.178,
"pos": 75501817,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.08,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020753.5"
}
]
}