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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: Y-2978360-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=Y&pos=2978360&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "Y",
"pos": 2978360,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000155093.8",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.1222+280C>T",
"hgvs_p": null,
"transcript": "NM_003411.4",
"protein_id": "NP_003402.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": "ENST00000155093.8",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.1222+280C>T",
"hgvs_p": null,
"transcript": "ENST00000155093.8",
"protein_id": "ENSP00000155093.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": "NM_003411.4",
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.991+280C>T",
"hgvs_p": null,
"transcript": "ENST00000449237.4",
"protein_id": "ENSP00000393908.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": -4,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3464,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.1222+280C>T",
"hgvs_p": null,
"transcript": "NM_001369702.1",
"protein_id": "NP_001356631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5013,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.1222+280C>T",
"hgvs_p": null,
"transcript": "ENST00000383052.5",
"protein_id": "ENSP00000372525.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5113,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.1144+280C>T",
"hgvs_p": null,
"transcript": "NM_001369703.1",
"protein_id": "NP_001356632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 775,
"cds_start": -4,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5247,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.1144+280C>T",
"hgvs_p": null,
"transcript": "NM_001369704.1",
"protein_id": "NP_001356633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 775,
"cds_start": -4,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4924,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.1144+280C>T",
"hgvs_p": null,
"transcript": "NM_001369705.1",
"protein_id": "NP_001356634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 775,
"cds_start": -4,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5113,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.1069+280C>T",
"hgvs_p": null,
"transcript": "NM_001369706.1",
"protein_id": "NP_001356635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5183,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.1069+280C>T",
"hgvs_p": null,
"transcript": "NM_001369707.1",
"protein_id": "NP_001356636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4860,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.991+280C>T",
"hgvs_p": null,
"transcript": "NM_001145275.2",
"protein_id": "NP_001138747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": -4,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5094,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.991+280C>T",
"hgvs_p": null,
"transcript": "NM_001369708.1",
"protein_id": "NP_001356637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4771,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.649+280C>T",
"hgvs_p": null,
"transcript": "NM_001145276.2",
"protein_id": "NP_001138748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": -4,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
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"cdna_length": 4440,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.649+280C>T",
"hgvs_p": null,
"transcript": "ENST00000625061.3",
"protein_id": "ENSP00000485605.1",
"transcript_support_level": 2,
"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,
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"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.496+280C>T",
"hgvs_p": null,
"transcript": "NM_001369709.1",
"protein_id": "NP_001356638.1",
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"aa_start": null,
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"aa_length": 559,
"cds_start": -4,
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"cdna_start": null,
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"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.370+280C>T",
"hgvs_p": null,
"transcript": "NM_001369710.1",
"protein_id": "NP_001356639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFY-AS1",
"gene_hgnc_id": 38798,
"hgvs_c": "n.596+3478G>A",
"hgvs_p": null,
"transcript": "ENST00000417305.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "n.262+280C>T",
"hgvs_p": null,
"transcript": "ENST00000478783.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 803,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFY-AS1",
"gene_hgnc_id": 38798,
"hgvs_c": "n.404+3478G>A",
"hgvs_p": null,
"transcript": "NR_144458.1",
"protein_id": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.1222+280C>T",
"hgvs_p": null,
"transcript": "XM_017030075.2",
"protein_id": "XP_016885564.1",
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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,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"hgvs_c": "c.1222+280C>T",
"hgvs_p": null,
"transcript": "XM_047442758.1",
"protein_id": "XP_047298714.1",
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"cdna_start": null,
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"cdna_length": 5045,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZFY",
"gene_hgnc_id": 12870,
"dbsnp": "rs34742138",
"frequency_reference_population": 0.027077412,
"hom_count_reference_population": 886,
"allele_count_reference_population": 886,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0270774,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 886,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"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": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.488,
"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": "ENST00000155093.8",
"gene_symbol": "ZFY",
"hgnc_id": 12870,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1222+280C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000417305.2",
"gene_symbol": "ZFY-AS1",
"hgnc_id": 38798,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.596+3478G>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
}