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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: 4-186271680-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186271680&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 186271680,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000403665.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "NM_000128.4",
"protein_id": "NP_000119.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 625,
"cds_start": 127,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": "ENST00000403665.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "ENST00000403665.7",
"protein_id": "ENSP00000384957.2",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 625,
"cds_start": 127,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": "NM_000128.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "NM_001440590.1",
"protein_id": "NP_001427519.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 609,
"cds_start": 127,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "NM_001440593.1",
"protein_id": "NP_001427522.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 593,
"cds_start": 127,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "NM_001440596.1",
"protein_id": "NP_001427525.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 577,
"cds_start": 127,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "NM_001440605.1",
"protein_id": "NP_001427534.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 535,
"cds_start": 127,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "NM_001440606.1",
"protein_id": "NP_001427535.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 519,
"cds_start": 127,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "NM_001440607.1",
"protein_id": "NP_001427536.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 503,
"cds_start": 127,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "NM_001440608.1",
"protein_id": "NP_001427537.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 487,
"cds_start": 127,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "NM_001354804.2",
"protein_id": "NP_001341733.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 162,
"cds_start": 127,
"cds_end": null,
"cds_length": 489,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "ENST00000492972.6",
"protein_id": "ENSP00000424479.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 162,
"cds_start": 127,
"cds_end": null,
"cds_length": 489,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 1204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "XM_005262821.5",
"protein_id": "XP_005262878.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 626,
"cds_start": 127,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "XM_006714137.4",
"protein_id": "XP_006714200.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 610,
"cds_start": 127,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "XM_005262822.5",
"protein_id": "XP_005262879.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 594,
"cds_start": 127,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "XM_005262823.5",
"protein_id": "XP_005262880.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 536,
"cds_start": 127,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "XM_017007884.3",
"protein_id": "XP_016863373.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 395,
"cds_start": 127,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "XM_017007885.3",
"protein_id": "XP_016863374.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 395,
"cds_start": 127,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser",
"transcript": "XM_017007886.3",
"protein_id": "XP_016863375.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 394,
"cds_start": 127,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"dbsnp": "rs281875264",
"frequency_reference_population": 6.84061e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84061e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8025874495506287,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.404,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1063,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.982,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000403665.7",
"gene_symbol": "F11",
"hgnc_id": 3529,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.127G>T",
"hgvs_p": "p.Ala43Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}