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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: 6-35458325-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35458325&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 35458325,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000229769.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.998T>C",
"hgvs_p": "p.Leu333Pro",
"transcript": "NM_021922.3",
"protein_id": "NP_068741.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 536,
"cds_start": 998,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": "ENST00000229769.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.998T>C",
"hgvs_p": "p.Leu333Pro",
"transcript": "ENST00000229769.3",
"protein_id": "ENSP00000229769.2",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 536,
"cds_start": 998,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": "NM_021922.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.998T>C",
"hgvs_p": "p.Leu333Pro",
"transcript": "NM_001410876.1",
"protein_id": "NP_001397805.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 451,
"cds_start": 998,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.998T>C",
"hgvs_p": "p.Leu333Pro",
"transcript": "ENST00000696264.1",
"protein_id": "ENSP00000512511.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 451,
"cds_start": 998,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.977T>C",
"hgvs_p": "p.Leu326Pro",
"transcript": "XM_005248885.3",
"protein_id": "XP_005248942.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 529,
"cds_start": 977,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Leu310Pro",
"transcript": "XM_005248886.3",
"protein_id": "XP_005248943.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 513,
"cds_start": 929,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.998T>C",
"hgvs_p": "p.Leu333Pro",
"transcript": "XM_005248887.3",
"protein_id": "XP_005248944.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 494,
"cds_start": 998,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Leu310Pro",
"transcript": "XM_047418300.1",
"protein_id": "XP_047274256.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 471,
"cds_start": 929,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.998T>C",
"hgvs_p": "p.Leu333Pro",
"transcript": "XM_047418301.1",
"protein_id": "XP_047274257.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 441,
"cds_start": 998,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Pro",
"transcript": "XM_011514343.3",
"protein_id": "XP_011512645.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 438,
"cds_start": 704,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Pro",
"transcript": "XM_047418302.1",
"protein_id": "XP_047274258.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 438,
"cds_start": 704,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Leu310Pro",
"transcript": "XM_047418303.1",
"protein_id": "XP_047274259.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 428,
"cds_start": 929,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 2314,
"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": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "n.998T>C",
"hgvs_p": null,
"transcript": "ENST00000648059.1",
"protein_id": "ENSP00000497902.1",
"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": 2550,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "n.998T>C",
"hgvs_p": null,
"transcript": "ENST00000696265.1",
"protein_id": "ENSP00000512512.1",
"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": 2280,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "n.647T>C",
"hgvs_p": null,
"transcript": "ENST00000696266.1",
"protein_id": "ENSP00000512513.1",
"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": 1874,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "n.1265T>C",
"hgvs_p": null,
"transcript": "ENST00000696267.1",
"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": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"dbsnp": "rs770592868",
"frequency_reference_population": 0.0000024783517,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000136817,
"gnomad_genomes_af": 0.0000131428,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8008644580841064,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.458,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7018,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.683,
"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": 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": "ENST00000229769.3",
"gene_symbol": "FANCE",
"hgnc_id": 3586,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.998T>C",
"hgvs_p": "p.Leu333Pro"
}
],
"clinvar_disease": "Fanconi anemia complementation group E",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Fanconi anemia complementation group E",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}