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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: 4-158859193-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=158859193&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 158859193,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000264433.11",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.994T>G",
"hgvs_p": "p.Phe332Val",
"transcript": "NM_020840.3",
"protein_id": "NP_065891.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1114,
"cds_start": 994,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 7038,
"mane_select": "ENST00000264433.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.994T>G",
"hgvs_p": "p.Phe332Val",
"transcript": "ENST00000264433.11",
"protein_id": "ENSP00000264433.6",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 1114,
"cds_start": 994,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 7038,
"mane_select": "NM_020840.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.1063T>G",
"hgvs_p": "p.Phe355Val",
"transcript": "ENST00000512986.5",
"protein_id": "ENSP00000421488.1",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 672,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.1153T>G",
"hgvs_p": "p.Phe385Val",
"transcript": "NM_001366843.1",
"protein_id": "NP_001353772.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 1167,
"cds_start": 1153,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 7419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.1063T>G",
"hgvs_p": "p.Phe355Val",
"transcript": "NM_001323916.2",
"protein_id": "NP_001310845.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 7329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.589T>G",
"hgvs_p": "p.Phe197Val",
"transcript": "ENST00000504715.1",
"protein_id": "ENSP00000420841.1",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 240,
"cds_start": 589,
"cds_end": null,
"cds_length": 724,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.1084T>G",
"hgvs_p": "p.Phe362Val",
"transcript": "XM_005263158.3",
"protein_id": "XP_005263215.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1144,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 7128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.1153T>G",
"hgvs_p": "p.Phe385Val",
"transcript": "XM_005263160.4",
"protein_id": "XP_005263217.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 1061,
"cds_start": 1153,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 9027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.1153T>G",
"hgvs_p": "p.Phe385Val",
"transcript": "XM_047416017.1",
"protein_id": "XP_047271973.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1153,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 3616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.1084T>G",
"hgvs_p": "p.Phe362Val",
"transcript": "XM_047416018.1",
"protein_id": "XP_047271974.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1038,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.1153T>G",
"hgvs_p": "p.Phe385Val",
"transcript": "XM_024454161.2",
"protein_id": "XP_024309929.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 1036,
"cds_start": 1153,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 4571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.1063T>G",
"hgvs_p": "p.Phe355Val",
"transcript": "XM_047416019.1",
"protein_id": "XP_047271975.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1031,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3096,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 8937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.1063T>G",
"hgvs_p": "p.Phe355Val",
"transcript": "XM_047416021.1",
"protein_id": "XP_047271977.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.82T>G",
"hgvs_p": "p.Phe28Val",
"transcript": "XM_047416022.1",
"protein_id": "XP_047271978.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 810,
"cds_start": 82,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 6207,
"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": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.-3-385T>G",
"hgvs_p": null,
"transcript": "NM_001346043.2",
"protein_id": "NP_001332972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.1106-4T>G",
"hgvs_p": null,
"transcript": "XM_017008487.2",
"protein_id": "XP_016863976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1150,
"cds_start": -4,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7811406850814819,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.621,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8176,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.969,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000264433.11",
"gene_symbol": "FNIP2",
"hgnc_id": 29280,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.994T>G",
"hgvs_p": "p.Phe332Val"
}
],
"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
}