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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: 15-90878165-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90878165&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90878165,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000268171.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "NM_002569.4",
"protein_id": "NP_002560.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 794,
"cds_start": 701,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": "ENST00000268171.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "ENST00000268171.8",
"protein_id": "ENSP00000268171.2",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 794,
"cds_start": 701,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": "NM_002569.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "NM_001289823.2",
"protein_id": "NP_001276752.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 794,
"cds_start": 701,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "NM_001289824.2",
"protein_id": "NP_001276753.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 794,
"cds_start": 701,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 4368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "NM_001382619.1",
"protein_id": "NP_001369548.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 794,
"cds_start": 701,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "NM_001382620.1",
"protein_id": "NP_001369549.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 794,
"cds_start": 701,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "NM_001382621.1",
"protein_id": "NP_001369550.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 794,
"cds_start": 701,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "ENST00000610579.4",
"protein_id": "ENSP00000484952.1",
"transcript_support_level": 5,
"aa_start": 234,
"aa_end": null,
"aa_length": 794,
"cds_start": 701,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "ENST00000618099.4",
"protein_id": "ENSP00000483552.1",
"transcript_support_level": 5,
"aa_start": 234,
"aa_end": null,
"aa_length": 794,
"cds_start": 701,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "ENST00000680053.1",
"protein_id": "ENSP00000506143.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 794,
"cds_start": 701,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 4287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Ala232Val",
"transcript": "ENST00000681865.1",
"protein_id": "ENSP00000505303.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 792,
"cds_start": 695,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "NM_001382622.1",
"protein_id": "NP_001369551.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 654,
"cds_start": 701,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "n.612C>T",
"hgvs_p": null,
"transcript": "ENST00000680687.1",
"protein_id": "ENSP00000505177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "n.*61C>T",
"hgvs_p": null,
"transcript": "ENST00000681804.1",
"protein_id": "ENSP00000505828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "n.926C>T",
"hgvs_p": null,
"transcript": "NR_168464.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "n.*61C>T",
"hgvs_p": null,
"transcript": "ENST00000681804.1",
"protein_id": "ENSP00000505828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"hgvs_c": "n.-29C>T",
"hgvs_p": null,
"transcript": "ENST00000558794.1",
"protein_id": "ENSP00000453942.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FURIN",
"gene_hgnc_id": 8568,
"dbsnp": "rs758699474",
"frequency_reference_population": 0.0000034210116,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342101,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30358487367630005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.382,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.144,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.6,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000268171.8",
"gene_symbol": "FURIN",
"hgnc_id": 8568,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val"
}
],
"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
}