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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: 4-158904486-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=158904486&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 158904486,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001366843.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.3287C>T",
"hgvs_p": "p.Pro1096Leu",
"transcript": "NM_020840.3",
"protein_id": "NP_065891.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3287,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3474,
"cdna_end": null,
"cdna_length": 7038,
"mane_select": "ENST00000264433.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020840.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.3287C>T",
"hgvs_p": "p.Pro1096Leu",
"transcript": "ENST00000264433.11",
"protein_id": "ENSP00000264433.6",
"transcript_support_level": 1,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3287,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3474,
"cdna_end": null,
"cdna_length": 7038,
"mane_select": "NM_020840.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264433.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPMIP2",
"gene_hgnc_id": 26342,
"hgvs_c": "c.546+10684G>A",
"hgvs_p": null,
"transcript": "NM_152543.3",
"protein_id": "NP_689756.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": "ENST00000434826.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152543.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPMIP2",
"gene_hgnc_id": 26342,
"hgvs_c": "c.546+10684G>A",
"hgvs_p": null,
"transcript": "ENST00000434826.3",
"protein_id": "ENSP00000412215.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": "NM_152543.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434826.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.3446C>T",
"hgvs_p": "p.Pro1149Leu",
"transcript": "NM_001366843.1",
"protein_id": "NP_001353772.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3446,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 3855,
"cdna_end": null,
"cdna_length": 7419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366843.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.3368C>T",
"hgvs_p": "p.Pro1123Leu",
"transcript": "ENST00000956831.1",
"protein_id": "ENSP00000626890.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3368,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 3372,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956831.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.3356C>T",
"hgvs_p": "p.Pro1119Leu",
"transcript": "NM_001323916.2",
"protein_id": "NP_001310845.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3356,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 3765,
"cdna_end": null,
"cdna_length": 7329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323916.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.3158C>T",
"hgvs_p": "p.Pro1053Leu",
"transcript": "ENST00000956830.1",
"protein_id": "ENSP00000626889.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1071,
"cds_start": 3158,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3298,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956830.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.2225C>T",
"hgvs_p": "p.Pro742Leu",
"transcript": "NM_001346043.2",
"protein_id": "NP_001332972.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 760,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 3272,
"cdna_end": null,
"cdna_length": 6836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346043.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.3395C>T",
"hgvs_p": "p.Pro1132Leu",
"transcript": "XM_017008487.2",
"protein_id": "XP_016863976.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3804,
"cdna_end": null,
"cdna_length": 7368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008487.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.3377C>T",
"hgvs_p": "p.Pro1126Leu",
"transcript": "XM_005263158.3",
"protein_id": "XP_005263215.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3377,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 3564,
"cdna_end": null,
"cdna_length": 7128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263158.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNIP2",
"gene_hgnc_id": 29280,
"hgvs_c": "c.2375C>T",
"hgvs_p": "p.Pro792Leu",
"transcript": "XM_047416022.1",
"protein_id": "XP_047271978.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 810,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2643,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416022.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPMIP2",
"gene_hgnc_id": 26342,
"hgvs_c": "c.546+10684G>A",
"hgvs_p": null,
"transcript": "XM_017007809.2",
"protein_id": "XP_016863298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007809.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPMIP2",
"gene_hgnc_id": 26342,
"hgvs_c": "c.546+10684G>A",
"hgvs_p": null,
"transcript": "XM_047449676.1",
"protein_id": "XP_047305632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449676.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPMIP2",
"gene_hgnc_id": 26342,
"hgvs_c": "c.525+10684G>A",
"hgvs_p": null,
"transcript": "XM_011531671.3",
"protein_id": "XP_011529973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": null,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531671.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPMIP2",
"gene_hgnc_id": 26342,
"hgvs_c": "c.525+10684G>A",
"hgvs_p": null,
"transcript": "XM_011531672.4",
"protein_id": "XP_011529974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": null,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531672.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPMIP2",
"gene_hgnc_id": 26342,
"hgvs_c": "n.582+10684G>A",
"hgvs_p": null,
"transcript": "ENST00000508011.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 756,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000508011.1"
}
],
"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": 0.8312447667121887,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.482,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7101,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.567,
"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": "NM_001366843.1",
"gene_symbol": "FNIP2",
"hgnc_id": 29280,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3446C>T",
"hgvs_p": "p.Pro1149Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152543.3",
"gene_symbol": "SPMIP2",
"hgnc_id": 26342,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.546+10684G>A",
"hgvs_p": null
}
],
"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
}