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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: 2-185791079-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=185791079&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 185791079,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000424728.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSIP2",
"gene_hgnc_id": 21675,
"hgvs_c": "c.3943G>A",
"hgvs_p": "p.Glu1315Lys",
"transcript": "NM_173651.4",
"protein_id": "NP_775922.3",
"transcript_support_level": null,
"aa_start": 1315,
"aa_end": null,
"aa_length": 6907,
"cds_start": 3943,
"cds_end": null,
"cds_length": 20724,
"cdna_start": 4034,
"cdna_end": null,
"cdna_length": 20879,
"mane_select": "ENST00000424728.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSIP2",
"gene_hgnc_id": 21675,
"hgvs_c": "c.3943G>A",
"hgvs_p": "p.Glu1315Lys",
"transcript": "ENST00000424728.6",
"protein_id": "ENSP00000401306.1",
"transcript_support_level": 5,
"aa_start": 1315,
"aa_end": null,
"aa_length": 6907,
"cds_start": 3943,
"cds_end": null,
"cds_length": 20724,
"cdna_start": 4034,
"cdna_end": null,
"cdna_length": 20879,
"mane_select": "NM_173651.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSIP2",
"gene_hgnc_id": 21675,
"hgvs_c": "c.3949G>A",
"hgvs_p": "p.Glu1317Lys",
"transcript": "XM_047444329.1",
"protein_id": "XP_047300285.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 6909,
"cds_start": 3949,
"cds_end": null,
"cds_length": 20730,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 20885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSIP2",
"gene_hgnc_id": 21675,
"hgvs_c": "c.3343G>A",
"hgvs_p": "p.Glu1115Lys",
"transcript": "XM_047444333.1",
"protein_id": "XP_047300289.1",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 6707,
"cds_start": 3343,
"cds_end": null,
"cds_length": 20124,
"cdna_start": 3939,
"cdna_end": null,
"cdna_length": 20784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSIP2",
"gene_hgnc_id": 21675,
"hgvs_c": "c.3949G>A",
"hgvs_p": "p.Glu1317Lys",
"transcript": "XM_047444331.1",
"protein_id": "XP_047300287.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 6668,
"cds_start": 3949,
"cds_end": null,
"cds_length": 20007,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 20162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSIP2",
"gene_hgnc_id": 21675,
"hgvs_c": "c.3949G>A",
"hgvs_p": "p.Glu1317Lys",
"transcript": "XM_047444335.1",
"protein_id": "XP_047300291.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 6615,
"cds_start": 3949,
"cds_end": null,
"cds_length": 19848,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 20090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSIP2",
"gene_hgnc_id": 21675,
"hgvs_c": "c.3949G>A",
"hgvs_p": "p.Glu1317Lys",
"transcript": "XM_047444336.1",
"protein_id": "XP_047300292.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 3468,
"cds_start": 3949,
"cds_end": null,
"cds_length": 10407,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 10574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FSIP2-AS1",
"gene_hgnc_id": 40978,
"hgvs_c": "n.73-2136C>T",
"hgvs_p": null,
"transcript": "ENST00000429929.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FSIP2-AS1",
"gene_hgnc_id": 40978,
"hgvs_c": "n.72-2136C>T",
"hgvs_p": null,
"transcript": "ENST00000436557.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FSIP2-AS1",
"gene_hgnc_id": 40978,
"hgvs_c": "n.70-2136C>T",
"hgvs_p": null,
"transcript": "ENST00000667756.2",
"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": 820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FSIP2-AS1",
"gene_hgnc_id": 40978,
"hgvs_c": "n.2245-2136C>T",
"hgvs_p": null,
"transcript": "ENST00000715603.1",
"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": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FSIP2-AS1",
"gene_hgnc_id": 40978,
"hgvs_c": "n.257-2136C>T",
"hgvs_p": null,
"transcript": "ENST00000769853.1",
"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": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FSIP2-AS1",
"gene_hgnc_id": 40978,
"hgvs_c": "n.195-2136C>T",
"hgvs_p": null,
"transcript": "ENST00000769854.1",
"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": 1456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FSIP2-AS1",
"gene_hgnc_id": 40978,
"hgvs_c": "n.72-2136C>T",
"hgvs_p": null,
"transcript": "NR_144453.1",
"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": 689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FSIP2-AS1",
"gene_hgnc_id": 40978,
"hgvs_c": "n.73-2136C>T",
"hgvs_p": null,
"transcript": "NR_144454.1",
"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": 440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FSIP2",
"gene_hgnc_id": 21675,
"dbsnp": "rs796052180",
"frequency_reference_population": 0.000011098837,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000108669,
"gnomad_genomes_af": 0.0000132146,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03031221032142639,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0644,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.217,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000424728.6",
"gene_symbol": "FSIP2",
"hgnc_id": 21675,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3943G>A",
"hgvs_p": "p.Glu1315Lys"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000429929.1",
"gene_symbol": "FSIP2-AS1",
"hgnc_id": 40978,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.73-2136C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}