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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: 11-72218687-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72218687&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72218687,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000298223.11",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Lys35Glu",
"transcript": "NM_000803.5",
"protein_id": "NP_000794.3",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 255,
"cds_start": 103,
"cds_end": null,
"cds_length": 768,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1112,
"mane_select": "ENST00000298223.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Lys35Glu",
"transcript": "ENST00000298223.11",
"protein_id": "ENSP00000298223.6",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 255,
"cds_start": 103,
"cds_end": null,
"cds_length": 768,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1112,
"mane_select": "NM_000803.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Lys35Glu",
"transcript": "NM_001113534.2",
"protein_id": "NP_001107006.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 255,
"cds_start": 103,
"cds_end": null,
"cds_length": 768,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 1106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Lys35Glu",
"transcript": "NM_001113535.2",
"protein_id": "NP_001107007.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 255,
"cds_start": 103,
"cds_end": null,
"cds_length": 768,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Lys35Glu",
"transcript": "NM_001113536.2",
"protein_id": "NP_001107008.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 255,
"cds_start": 103,
"cds_end": null,
"cds_length": 768,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 1094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Lys52Glu",
"transcript": "ENST00000449475.6",
"protein_id": "ENSP00000405638.2",
"transcript_support_level": 3,
"aa_start": 52,
"aa_end": null,
"aa_length": 251,
"cds_start": 154,
"cds_end": null,
"cds_length": 756,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Lys48Glu",
"transcript": "ENST00000321324.11",
"protein_id": "ENSP00000321957.7",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 209,
"cds_start": 142,
"cds_end": null,
"cds_length": 631,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Lys50Glu",
"transcript": "ENST00000536778.5",
"protein_id": "ENSP00000438568.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 197,
"cds_start": 148,
"cds_end": null,
"cds_length": 594,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Lys46Glu",
"transcript": "ENST00000539412.5",
"protein_id": "ENSP00000441547.1",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 179,
"cds_start": 136,
"cds_end": null,
"cds_length": 542,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Lys35Glu",
"transcript": "ENST00000535625.5",
"protein_id": "ENSP00000444794.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 170,
"cds_start": 103,
"cds_end": null,
"cds_length": 515,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Lys35Glu",
"transcript": "ENST00000538353.1",
"protein_id": "ENSP00000440337.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 168,
"cds_start": 103,
"cds_end": null,
"cds_length": 509,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.241A>G",
"hgvs_p": "p.Lys81Glu",
"transcript": "ENST00000541003.5",
"protein_id": "ENSP00000443307.1",
"transcript_support_level": 3,
"aa_start": 81,
"aa_end": null,
"aa_length": 147,
"cds_start": 241,
"cds_end": null,
"cds_length": 446,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.130A>G",
"hgvs_p": "p.Lys44Glu",
"transcript": "XM_005273856.5",
"protein_id": "XP_005273913.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 264,
"cds_start": 130,
"cds_end": null,
"cds_length": 795,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Lys35Glu",
"transcript": "XM_047426683.1",
"protein_id": "XP_047282639.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 255,
"cds_start": 103,
"cds_end": null,
"cds_length": 768,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 1130,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"hgvs_c": "c.27+1762A>G",
"hgvs_p": null,
"transcript": "ENST00000454954.6",
"protein_id": "ENSP00000414094.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": -4,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FOLR2",
"gene_hgnc_id": 3793,
"dbsnp": "rs13908",
"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": 0.8480187058448792,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.692,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3364,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.678,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000298223.11",
"gene_symbol": "FOLR2",
"hgnc_id": 3793,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Lys35Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}