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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: 2-106140909-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=106140909&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 106140909,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000283148.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.472+4281C>G",
"hgvs_p": null,
"transcript": "NM_001253875.2",
"protein_id": "NP_001240804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": "ENST00000283148.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.472+4281C>G",
"hgvs_p": null,
"transcript": "ENST00000283148.12",
"protein_id": "ENSP00000283148.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": "NM_001253875.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.457+4281C>G",
"hgvs_p": null,
"transcript": "ENST00000409501.7",
"protein_id": "ENSP00000387019.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.457+4281C>G",
"hgvs_p": null,
"transcript": "NM_025076.5",
"protein_id": "NP_079352.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.472+4281C>G",
"hgvs_p": null,
"transcript": "NM_001377504.1",
"protein_id": "NP_001364433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.457+4281C>G",
"hgvs_p": null,
"transcript": "NM_001377505.1",
"protein_id": "NP_001364434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.292+4281C>G",
"hgvs_p": null,
"transcript": "NM_001377506.1",
"protein_id": "NP_001364435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": -4,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.472+4281C>G",
"hgvs_p": null,
"transcript": "NM_001377507.1",
"protein_id": "NP_001364436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.457+4281C>G",
"hgvs_p": null,
"transcript": "NM_001377508.1",
"protein_id": "NP_001364437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.133+4281C>G",
"hgvs_p": null,
"transcript": "NM_001377509.1",
"protein_id": "NP_001364438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": -4,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.286+4281C>G",
"hgvs_p": null,
"transcript": "ENST00000457835.5",
"protein_id": "ENSP00000399316.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
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"cds_length": 572,
"cdna_start": null,
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"cdna_length": 682,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.95-15230C>G",
"hgvs_p": null,
"transcript": "ENST00000441952.5",
"protein_id": "ENSP00000416656.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 512,
"cdna_start": null,
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"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.-47-11131C>G",
"hgvs_p": null,
"transcript": "ENST00000416298.5",
"protein_id": "ENSP00000403612.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 133,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.-48+4281C>G",
"hgvs_p": null,
"transcript": "ENST00000444193.5",
"protein_id": "ENSP00000404468.1",
"transcript_support_level": 3,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 5,
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"gene_symbol": "UXS1",
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"hgvs_c": "n.468+4281C>G",
"hgvs_p": null,
"transcript": "NR_045607.2",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "n.637+4281C>G",
"hgvs_p": null,
"transcript": "NR_165308.1",
"protein_id": null,
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.454+4281C>G",
"hgvs_p": null,
"transcript": "XM_011511902.3",
"protein_id": "XP_011510204.2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.439+4281C>G",
"hgvs_p": null,
"transcript": "XM_011511903.3",
"protein_id": "XP_011510205.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.439+4281C>G",
"hgvs_p": null,
"transcript": "XM_047445918.1",
"protein_id": "XP_047301874.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.-47-11131C>G",
"hgvs_p": null,
"transcript": "XM_024453157.2",
"protein_id": "XP_024308925.1",
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"cdna_length": 1540,
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}
],
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"dbsnp": "rs17279736",
"frequency_reference_population": 0.24792536,
"hom_count_reference_population": 5084,
"allele_count_reference_population": 37703,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.247925,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 37703,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5084,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.692,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000283148.12",
"gene_symbol": "UXS1",
"hgnc_id": 17729,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.472+4281C>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
}