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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: 17-75501124-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75501124&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75501124,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020753.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3565A>G",
"hgvs_p": "p.Met1189Val",
"transcript": "NM_020753.5",
"protein_id": "NP_065804.2",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3565,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 4106,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": "ENST00000321617.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020753.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3565A>G",
"hgvs_p": "p.Met1189Val",
"transcript": "ENST00000321617.8",
"protein_id": "ENSP00000325355.3",
"transcript_support_level": 1,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3565,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 4106,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": "NM_020753.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321617.8"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3628A>G",
"hgvs_p": "p.Met1210Val",
"transcript": "ENST00000861913.1",
"protein_id": "ENSP00000531972.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3628,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 4103,
"cdna_end": null,
"cdna_length": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861913.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3628A>G",
"hgvs_p": "p.Met1210Val",
"transcript": "ENST00000861914.1",
"protein_id": "ENSP00000531973.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3628,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 4150,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861914.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3586A>G",
"hgvs_p": "p.Met1196Val",
"transcript": "ENST00000913139.1",
"protein_id": "ENSP00000583198.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3586,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 4067,
"cdna_end": null,
"cdna_length": 4930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913139.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3565A>G",
"hgvs_p": "p.Met1189Val",
"transcript": "ENST00000861906.1",
"protein_id": "ENSP00000531965.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3565,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 4232,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861906.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3565A>G",
"hgvs_p": "p.Met1189Val",
"transcript": "ENST00000861909.1",
"protein_id": "ENSP00000531968.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3565,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 4194,
"cdna_end": null,
"cdna_length": 5057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861909.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3565A>G",
"hgvs_p": "p.Met1189Val",
"transcript": "ENST00000913141.1",
"protein_id": "ENSP00000583200.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3565,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 4157,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913141.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3562A>G",
"hgvs_p": "p.Met1188Val",
"transcript": "ENST00000861910.1",
"protein_id": "ENSP00000531969.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3562,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 4043,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861910.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3562A>G",
"hgvs_p": "p.Met1188Val",
"transcript": "ENST00000861911.1",
"protein_id": "ENSP00000531970.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3562,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 4043,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861911.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3562A>G",
"hgvs_p": "p.Met1188Val",
"transcript": "ENST00000913138.1",
"protein_id": "ENSP00000583197.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3562,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 4112,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913138.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3556A>G",
"hgvs_p": "p.Met1186Val",
"transcript": "ENST00000861907.1",
"protein_id": "ENSP00000531966.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3556,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 4117,
"cdna_end": null,
"cdna_length": 4977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861907.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3556A>G",
"hgvs_p": "p.Met1186Val",
"transcript": "ENST00000861908.1",
"protein_id": "ENSP00000531967.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3556,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 4058,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861908.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3547A>G",
"hgvs_p": "p.Met1183Val",
"transcript": "ENST00000913140.1",
"protein_id": "ENSP00000583199.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 4003,
"cdna_end": null,
"cdna_length": 4863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913140.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3319A>G",
"hgvs_p": "p.Met1107Val",
"transcript": "NM_001142643.3",
"protein_id": "NP_001136115.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3319,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 3637,
"cdna_end": null,
"cdna_length": 4500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142643.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3319A>G",
"hgvs_p": "p.Met1107Val",
"transcript": "ENST00000433559.6",
"protein_id": "ENSP00000406963.2",
"transcript_support_level": 2,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3319,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 3635,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433559.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3244A>G",
"hgvs_p": "p.Met1082Val",
"transcript": "ENST00000861915.1",
"protein_id": "ENSP00000531974.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1095,
"cds_start": 3244,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 3412,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861915.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3181A>G",
"hgvs_p": "p.Met1061Val",
"transcript": "ENST00000861912.1",
"protein_id": "ENSP00000531971.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1074,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3688,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861912.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"hgvs_c": "c.3565A>G",
"hgvs_p": "p.Met1189Val",
"transcript": "XM_047436459.1",
"protein_id": "XP_047292415.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3565,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 4148,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436459.1"
}
],
"gene_symbol": "CASKIN2",
"gene_hgnc_id": 18200,
"dbsnp": null,
"frequency_reference_population": 6.9414847e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.94148e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7124220728874207,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.759,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5374,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.786,
"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": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020753.5",
"gene_symbol": "CASKIN2",
"hgnc_id": 18200,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3565A>G",
"hgvs_p": "p.Met1189Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}