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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: 13-98006104-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=98006104&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 98006104,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000651721.2",
"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": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1498-26G>T",
"hgvs_p": null,
"transcript": "NM_002271.6",
"protein_id": "NP_002262.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": -4,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6002,
"mane_select": "ENST00000651721.2",
"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": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1498-26G>T",
"hgvs_p": null,
"transcript": "ENST00000651721.2",
"protein_id": "ENSP00000499125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": -4,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6002,
"mane_select": "NM_002271.6",
"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": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1552-26G>T",
"hgvs_p": null,
"transcript": "ENST00000261574.10",
"protein_id": "ENSP00000261574.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": -4,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6001,
"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": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1498-26G>T",
"hgvs_p": null,
"transcript": "ENST00000490680.5",
"protein_id": "ENSP00000418393.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": -4,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3419,
"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": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1501-26G>T",
"hgvs_p": null,
"transcript": "ENST00000469360.5",
"protein_id": "ENSP00000419764.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": -4,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3505,
"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": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1498-26G>T",
"hgvs_p": null,
"transcript": "ENST00000357602.7",
"protein_id": "ENSP00000350219.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": -4,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "n.473-26G>T",
"hgvs_p": null,
"transcript": "ENST00000479736.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "n.1211-26G>T",
"hgvs_p": null,
"transcript": "ENST00000491555.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "n.30-26G>T",
"hgvs_p": null,
"transcript": "ENST00000493492.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 474,
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1552-26G>T",
"hgvs_p": null,
"transcript": "XM_005254052.4",
"protein_id": "XP_005254109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": -4,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5922,
"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": 30,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1552-26G>T",
"hgvs_p": null,
"transcript": "XM_011521087.3",
"protein_id": "XP_011519389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6059,
"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": 30,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1552-26G>T",
"hgvs_p": null,
"transcript": "XM_011521088.3",
"protein_id": "XP_011519390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6125,
"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": 31,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1552-26G>T",
"hgvs_p": null,
"transcript": "XM_011521089.3",
"protein_id": "XP_011519391.1",
"transcript_support_level": null,
"aa_start": 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": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1552-26G>T",
"hgvs_p": null,
"transcript": "XM_017020562.2",
"protein_id": "XP_016876051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": -4,
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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": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1552-26G>T",
"hgvs_p": null,
"transcript": "XM_024449346.2",
"protein_id": "XP_024305114.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1115,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6018,
"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": 30,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1552-26G>T",
"hgvs_p": null,
"transcript": "XM_047430296.1",
"protein_id": "XP_047286252.1",
"transcript_support_level": null,
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"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1552-26G>T",
"hgvs_p": null,
"transcript": "XM_047430297.1",
"protein_id": "XP_047286253.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1115,
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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": 31,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1552-26G>T",
"hgvs_p": null,
"transcript": "XM_047430298.1",
"protein_id": "XP_047286254.1",
"transcript_support_level": null,
"aa_start": null,
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"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": 31,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1498-26G>T",
"hgvs_p": null,
"transcript": "XM_047430299.1",
"protein_id": "XP_047286255.1",
"transcript_support_level": null,
"aa_start": null,
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"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": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.1498-26G>T",
"hgvs_p": null,
"transcript": "XM_047430300.1",
"protein_id": "XP_047286256.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5790,
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"feature": null
}
],
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"dbsnp": "rs633161",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.071,
"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": "ENST00000651721.2",
"gene_symbol": "IPO5",
"hgnc_id": 6402,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1498-26G>T",
"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
}