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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: 6-41568689-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=41568689&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 41568689,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000307972.10",
"consequences": [
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "NM_001012426.2",
"protein_id": "NP_001012426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5994,
"mane_select": "ENST00000307972.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "ENST00000307972.10",
"protein_id": "ENSP00000309823.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5994,
"mane_select": "NM_001012426.2",
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "ENST00000373057.7",
"protein_id": "ENSP00000362148.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3300,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "ENST00000373063.7",
"protein_id": "ENSP00000362154.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 667,
"cds_start": -4,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5910,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "ENST00000704756.1",
"protein_id": "ENSP00000516024.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4396,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "NM_001012427.2",
"protein_id": "NP_001012427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5988,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "NM_001405824.1",
"protein_id": "NP_001392753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": -4,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5958,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "ENST00000409208.5",
"protein_id": "ENSP00000386958.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": -4,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3341,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "NM_138457.3",
"protein_id": "NP_612466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 667,
"cds_start": -4,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "NM_001405825.1",
"protein_id": "NP_001392754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
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"cdna_length": 5898,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "NM_001405826.1",
"protein_id": "NP_001392755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 2,
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"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "XM_011514289.3",
"protein_id": "XP_011512591.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 687,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "XM_017010233.2",
"protein_id": "XP_016865722.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "XM_011514290.3",
"protein_id": "XP_011512592.1",
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 2,
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"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
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"transcript": "XM_006714991.4",
"protein_id": "XP_006715054.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 2,
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"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "XM_011514291.4",
"protein_id": "XP_011512593.1",
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},
{
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"intron_variant"
],
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"intron_rank": 2,
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"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "XM_047418160.1",
"protein_id": "XP_047274116.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null,
"transcript": "XM_011514292.4",
"protein_id": "XP_011512594.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "n.707+2725C>G",
"hgvs_p": null,
"transcript": "XR_926052.4",
"protein_id": null,
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"hgvs_c": "n.707+2725C>G",
"hgvs_p": null,
"transcript": "XR_926053.3",
"protein_id": null,
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"cdna_length": 1802,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "FOXP4",
"gene_hgnc_id": 20842,
"dbsnp": "rs1983891",
"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": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.261,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000307972.10",
"gene_symbol": "FOXP4",
"hgnc_id": 20842,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.204+2725C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}