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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: 4-186280373-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186280373&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 186280373,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000403665.7",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1016G>T",
"hgvs_p": "p.Cys339Phe",
"transcript": "NM_000128.4",
"protein_id": "NP_000119.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 625,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": "ENST00000403665.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1016G>T",
"hgvs_p": "p.Cys339Phe",
"transcript": "ENST00000403665.7",
"protein_id": "ENSP00000384957.2",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 625,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": "NM_000128.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.968G>T",
"hgvs_p": "p.Cys323Phe",
"transcript": "NM_001440590.1",
"protein_id": "NP_001427519.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 609,
"cds_start": 968,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1016G>T",
"hgvs_p": "p.Cys339Phe",
"transcript": "NM_001440593.1",
"protein_id": "NP_001427522.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 593,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.968G>T",
"hgvs_p": "p.Cys323Phe",
"transcript": "NM_001440596.1",
"protein_id": "NP_001427525.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 577,
"cds_start": 968,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.746G>T",
"hgvs_p": "p.Cys249Phe",
"transcript": "NM_001440605.1",
"protein_id": "NP_001427534.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 535,
"cds_start": 746,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.698G>T",
"hgvs_p": "p.Cys233Phe",
"transcript": "NM_001440606.1",
"protein_id": "NP_001427535.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 519,
"cds_start": 698,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.746G>T",
"hgvs_p": "p.Cys249Phe",
"transcript": "NM_001440607.1",
"protein_id": "NP_001427536.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 503,
"cds_start": 746,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.698G>T",
"hgvs_p": "p.Cys233Phe",
"transcript": "NM_001440608.1",
"protein_id": "NP_001427537.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 487,
"cds_start": 698,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Cys154Phe",
"transcript": "ENST00000452239.1",
"protein_id": "ENSP00000397401.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 209,
"cds_start": 461,
"cds_end": null,
"cds_length": 630,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1016G>T",
"hgvs_p": "p.Cys339Phe",
"transcript": "XM_005262821.5",
"protein_id": "XP_005262878.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 626,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.968G>T",
"hgvs_p": "p.Cys323Phe",
"transcript": "XM_006714137.4",
"protein_id": "XP_006714200.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 610,
"cds_start": 968,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1016G>T",
"hgvs_p": "p.Cys339Phe",
"transcript": "XM_005262822.5",
"protein_id": "XP_005262879.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 594,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.746G>T",
"hgvs_p": "p.Cys249Phe",
"transcript": "XM_005262823.5",
"protein_id": "XP_005262880.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 536,
"cds_start": 746,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1016G>T",
"hgvs_p": "p.Cys339Phe",
"transcript": "XM_017007884.3",
"protein_id": "XP_016863373.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 395,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1016G>T",
"hgvs_p": "p.Cys339Phe",
"transcript": "XM_017007885.3",
"protein_id": "XP_016863374.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 395,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1016G>T",
"hgvs_p": "p.Cys339Phe",
"transcript": "XM_017007886.3",
"protein_id": "XP_016863375.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 394,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"dbsnp": "rs5967",
"frequency_reference_population": 0.0011027257,
"hom_count_reference_population": 19,
"allele_count_reference_population": 1780,
"gnomad_exomes_af": 0.000643009,
"gnomad_genomes_af": 0.00551521,
"gnomad_exomes_ac": 940,
"gnomad_genomes_ac": 840,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007949858903884888,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.265,
"revel_prediction": "Benign",
"alphamissense_score": 0.0925,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.592,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 20,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000403665.7",
"gene_symbol": "F11",
"hgnc_id": 3529,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1016G>T",
"hgvs_p": "p.Cys339Phe"
}
],
"clinvar_disease": "F11-related disorder,Hereditary factor XI deficiency disease,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Hereditary factor XI deficiency disease|not provided|F11-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}