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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: 15-84616764-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=84616764&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 84616764,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000546148.6",
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.407-3838T>C",
"hgvs_p": null,
"transcript": "NM_181877.4",
"protein_id": "NP_870992.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": "ENST00000546148.6",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.407-3838T>C",
"hgvs_p": null,
"transcript": "ENST00000546148.6",
"protein_id": "ENSP00000445451.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": "NM_181877.4",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.404-3838T>C",
"hgvs_p": null,
"transcript": "ENST00000327179.6",
"protein_id": "ENSP00000325123.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": -4,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2390,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.407-3838T>C",
"hgvs_p": null,
"transcript": "ENST00000538076.5",
"protein_id": "ENSP00000439132.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": -4,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1109,
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.407-3838T>C",
"hgvs_p": null,
"transcript": "ENST00000541040.5",
"protein_id": "ENSP00000441342.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 965,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.407-3838T>C",
"hgvs_p": null,
"transcript": "ENST00000485222.2",
"protein_id": "ENSP00000440004.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 910,
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "n.407-3838T>C",
"hgvs_p": null,
"transcript": "ENST00000540894.5",
"protein_id": "ENSP00000441855.1",
"transcript_support_level": 1,
"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": 2914,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.407-3838T>C",
"hgvs_p": null,
"transcript": "ENST00000448803.6",
"protein_id": "ENSP00000410198.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3813,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.-44-3838T>C",
"hgvs_p": null,
"transcript": "ENST00000358472.3",
"protein_id": "ENSP00000351257.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": -4,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3231,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.274-3838T>C",
"hgvs_p": null,
"transcript": "ENST00000540936.1",
"protein_id": "ENSP00000446041.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 106,
"cds_start": -4,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
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"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2-AS1",
"gene_hgnc_id": 56673,
"hgvs_c": "n.1446-10301A>G",
"hgvs_p": null,
"transcript": "ENST00000618330.3",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ZSCAN2-AS1",
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"hgvs_c": "n.1446-12779A>G",
"hgvs_p": null,
"transcript": "ENST00000658287.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2-AS1",
"gene_hgnc_id": 56673,
"hgvs_c": "n.345-10301A>G",
"hgvs_p": null,
"transcript": "ENST00000762028.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.500-3838T>C",
"hgvs_p": null,
"transcript": "XM_024449978.2",
"protein_id": "XP_024305746.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.407-3838T>C",
"hgvs_p": null,
"transcript": "XM_024449975.2",
"protein_id": "XP_024305743.1",
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"cdna_start": 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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.407-3838T>C",
"hgvs_p": null,
"transcript": "XM_047432781.1",
"protein_id": "XP_047288737.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.-45+1937T>C",
"hgvs_p": null,
"transcript": "XM_024449976.2",
"protein_id": "XP_024305744.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.*421T>C",
"hgvs_p": null,
"transcript": "ENST00000379358.7",
"protein_id": "ENSP00000368663.3",
"transcript_support_level": 1,
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"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": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.*421T>C",
"hgvs_p": null,
"transcript": "NM_001007072.2",
"protein_id": "NP_001007073.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.*454T>C",
"hgvs_p": null,
"transcript": "XM_017022393.3",
"protein_id": "XP_016877882.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"dbsnp": "rs3817193",
"frequency_reference_population": 0.8448188,
"hom_count_reference_population": 301073,
"allele_count_reference_population": 710915,
"gnomad_exomes_af": 0.840996,
"gnomad_genomes_af": 0.862129,
"gnomad_exomes_ac": 579692,
"gnomad_genomes_ac": 131223,
"gnomad_exomes_homalt": 244357,
"gnomad_genomes_homalt": 56716,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.076,
"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": "ENST00000546148.6",
"gene_symbol": "ZSCAN2",
"hgnc_id": 20994,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.407-3838T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000658287.1",
"gene_symbol": "ZSCAN2-AS1",
"hgnc_id": 56673,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1446-12779A>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
}