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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-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75501817&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75501817,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020753.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3257C>A",
"hgvs_p": "p.Pro1086Gln",
"transcript": "NM_020753.5",
"protein_id": "NP_065804.2",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321617.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020753.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3257C>A",
"hgvs_p": "p.Pro1086Gln",
"transcript": "ENST00000321617.8",
"protein_id": "ENSP00000325355.3",
"transcript_support_level": 1,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020753.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321617.8"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3320C>A",
"hgvs_p": "p.Pro1107Gln",
"transcript": "ENST00000861913.1",
"protein_id": "ENSP00000531972.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3320,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861913.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3320C>A",
"hgvs_p": "p.Pro1107Gln",
"transcript": "ENST00000861914.1",
"protein_id": "ENSP00000531973.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3320,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861914.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3257C>A",
"hgvs_p": "p.Pro1086Gln",
"transcript": "ENST00000913139.1",
"protein_id": "ENSP00000583198.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913139.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3257C>A",
"hgvs_p": "p.Pro1086Gln",
"transcript": "ENST00000861906.1",
"protein_id": "ENSP00000531965.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861906.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3257C>A",
"hgvs_p": "p.Pro1086Gln",
"transcript": "ENST00000861909.1",
"protein_id": "ENSP00000531968.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861909.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3257C>A",
"hgvs_p": "p.Pro1086Gln",
"transcript": "ENST00000913141.1",
"protein_id": "ENSP00000583200.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913141.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3254C>A",
"hgvs_p": "p.Pro1085Gln",
"transcript": "ENST00000861910.1",
"protein_id": "ENSP00000531969.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3254,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861910.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3254C>A",
"hgvs_p": "p.Pro1085Gln",
"transcript": "ENST00000861911.1",
"protein_id": "ENSP00000531970.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3254,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861911.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3254C>A",
"hgvs_p": "p.Pro1085Gln",
"transcript": "ENST00000913138.1",
"protein_id": "ENSP00000583197.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3254,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913138.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3257C>A",
"hgvs_p": "p.Pro1086Gln",
"transcript": "ENST00000861907.1",
"protein_id": "ENSP00000531966.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861907.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3248C>A",
"hgvs_p": "p.Pro1083Gln",
"transcript": "ENST00000861908.1",
"protein_id": "ENSP00000531967.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3248,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861908.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3239C>A",
"hgvs_p": "p.Pro1080Gln",
"transcript": "ENST00000913140.1",
"protein_id": "ENSP00000583199.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3239,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913140.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3011C>A",
"hgvs_p": "p.Pro1004Gln",
"transcript": "NM_001142643.3",
"protein_id": "NP_001136115.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3011,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142643.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3011C>A",
"hgvs_p": "p.Pro1004Gln",
"transcript": "ENST00000433559.6",
"protein_id": "ENSP00000406963.2",
"transcript_support_level": 2,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3011,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433559.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.2936C>A",
"hgvs_p": "p.Pro979Gln",
"transcript": "ENST00000861915.1",
"protein_id": "ENSP00000531974.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2936,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861915.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.2873C>A",
"hgvs_p": "p.Pro958Gln",
"transcript": "ENST00000861912.1",
"protein_id": "ENSP00000531971.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2873,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861912.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3257C>A",
"hgvs_p": "p.Pro1086Gln",
"transcript": "XM_047436459.1",
"protein_id": "XP_047292415.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436459.1"
}
],
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"dbsnp": "rs199651519",
"frequency_reference_population": 0.0000050133212,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000501332,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08738827705383301,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.0795,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.178,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_020753.5",
"gene_symbol": "CASKIN2",
"hgnc_id": 18200,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3257C>A",
"hgvs_p": "p.Pro1086Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}