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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: 16-85591521-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=85591521&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 85591521,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000635906.1",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.2465-42393G>A",
"hgvs_p": null,
"transcript": "ENST00000637419.1",
"protein_id": "ENSP00000490157.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2683,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.37+35158G>A",
"hgvs_p": null,
"transcript": "ENST00000635906.1",
"protein_id": "ENSP00000490289.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": -4,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 666,
"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": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.2132-42393G>A",
"hgvs_p": null,
"transcript": "XM_005255859.6",
"protein_id": "XP_005255916.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1925,
"cds_start": -4,
"cds_end": null,
"cds_length": 5778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9716,
"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": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.2132-42393G>A",
"hgvs_p": null,
"transcript": "XM_005255860.4",
"protein_id": "XP_005255917.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9602,
"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": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.2132-57031G>A",
"hgvs_p": null,
"transcript": "XM_005255861.6",
"protein_id": "XP_005255918.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1852,
"cds_start": -4,
"cds_end": null,
"cds_length": 5559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9497,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.116-42393G>A",
"hgvs_p": null,
"transcript": "XM_011522965.4",
"protein_id": "XP_011521267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": -4,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7457,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.44-42393G>A",
"hgvs_p": null,
"transcript": "XM_005255863.5",
"protein_id": "XP_005255920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1229,
"cds_start": -4,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7685,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.37+35158G>A",
"hgvs_p": null,
"transcript": "XM_005255864.5",
"protein_id": "XP_005255921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": -4,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7985,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.13+27284G>A",
"hgvs_p": null,
"transcript": "XM_047433820.1",
"protein_id": "XP_047289776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": -4,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8335,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.-3+35158G>A",
"hgvs_p": null,
"transcript": "XM_047433821.1",
"protein_id": "XP_047289777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
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"cdna_length": 7412,
"mane_select": null,
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"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": 1,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.-3+38044G>A",
"hgvs_p": null,
"transcript": "XM_047433823.1",
"protein_id": "XP_047289779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
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"cdna_length": 7488,
"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,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.37+35158G>A",
"hgvs_p": null,
"transcript": "XM_047433827.1",
"protein_id": "XP_047289783.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.116-57031G>A",
"hgvs_p": null,
"transcript": "XM_047433828.1",
"protein_id": "XP_047289784.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1180,
"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.44-57031G>A",
"hgvs_p": null,
"transcript": "XM_047433831.1",
"protein_id": "XP_047289787.1",
"transcript_support_level": null,
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"cds_start": -4,
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"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.37+35158G>A",
"hgvs_p": null,
"transcript": "XM_005255865.5",
"protein_id": "XP_005255922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1154,
"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,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.13+27284G>A",
"hgvs_p": null,
"transcript": "XM_047433830.1",
"protein_id": "XP_047289786.1",
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},
{
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"intron_variant"
],
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.37+35158G>A",
"hgvs_p": null,
"transcript": "XM_047433832.1",
"protein_id": "XP_047289788.1",
"transcript_support_level": null,
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"cds_start": -4,
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"feature": 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": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.-87+35158G>A",
"hgvs_p": null,
"transcript": "XM_047433836.1",
"protein_id": "XP_047289792.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"hgvs_c": "c.2465-42393G>A",
"hgvs_p": null,
"transcript": "XM_047433837.1",
"protein_id": "XP_047289793.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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}
],
"gene_symbol": "GSE1",
"gene_hgnc_id": 28979,
"dbsnp": "rs4240810",
"frequency_reference_population": 0.000013150454,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131505,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.199,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "ENST00000635906.1",
"gene_symbol": "GSE1",
"hgnc_id": 28979,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.37+35158G>A",
"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
}