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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: 18-12532099-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12532099&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 12532099,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000409402.9",
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.729+3377G>A",
"hgvs_p": null,
"transcript": "NM_001128626.2",
"protein_id": "NP_001122098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": "ENST00000409402.9",
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.729+3377G>A",
"hgvs_p": null,
"transcript": "ENST00000409402.9",
"protein_id": "ENSP00000387266.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": "NM_001128626.2",
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.729+3377G>A",
"hgvs_p": null,
"transcript": "ENST00000410092.7",
"protein_id": "ENSP00000387226.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "n.252+3377G>A",
"hgvs_p": null,
"transcript": "ENST00000440472.6",
"protein_id": "ENSP00000404752.1",
"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": 2109,
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.729+3377G>A",
"hgvs_p": null,
"transcript": "NM_020148.3",
"protein_id": "NP_064533.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5596,
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.405+3377G>A",
"hgvs_p": null,
"transcript": "NM_001394323.1",
"protein_id": "NP_001381252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5769,
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.369+3377G>A",
"hgvs_p": null,
"transcript": "NM_001128627.1",
"protein_id": "NP_001122099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5100,
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.369+3377G>A",
"hgvs_p": null,
"transcript": "ENST00000453447.6",
"protein_id": "ENSP00000407050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2107,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.138+3377G>A",
"hgvs_p": null,
"transcript": "NM_001394324.1",
"protein_id": "NP_001381253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": -4,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4869,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.138+3377G>A",
"hgvs_p": null,
"transcript": "ENST00000309836.9",
"protein_id": "ENSP00000309661.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": -4,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1877,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.369+3377G>A",
"hgvs_p": null,
"transcript": "ENST00000449797.5",
"protein_id": "ENSP00000401392.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 701,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.423+3377G>A",
"hgvs_p": null,
"transcript": "ENST00000497844.6",
"protein_id": "ENSP00000467103.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": -4,
"cds_end": null,
"cds_length": 442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "n.465+3377G>A",
"hgvs_p": null,
"transcript": "NR_197429.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5115,
"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,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.729+3377G>A",
"hgvs_p": null,
"transcript": "XM_011525701.2",
"protein_id": "XP_011524003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.729+3377G>A",
"hgvs_p": null,
"transcript": "XM_005258122.5",
"protein_id": "XP_005258179.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 800,
"cds_start": -4,
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"cdna_start": null,
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"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,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.369+3377G>A",
"hgvs_p": null,
"transcript": "XM_011525702.2",
"protein_id": "XP_011524004.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 4,
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"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.369+3377G>A",
"hgvs_p": null,
"transcript": "XM_024451224.2",
"protein_id": "XP_024306992.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.369+3377G>A",
"hgvs_p": null,
"transcript": "XM_047437672.1",
"protein_id": "XP_047293628.1",
"transcript_support_level": null,
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"aa_length": 694,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.369+3377G>A",
"hgvs_p": null,
"transcript": "XM_047437673.1",
"protein_id": "XP_047293629.1",
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},
{
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"protein_coding": true,
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],
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"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
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"hgvs_c": "c.369+3377G>A",
"hgvs_p": null,
"transcript": "XM_047437674.1",
"protein_id": "XP_047293630.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"hgvs_c": "c.729+3377G>A",
"hgvs_p": null,
"transcript": "XM_011525703.3",
"protein_id": "XP_011524005.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "SPIRE1",
"gene_hgnc_id": 30622,
"dbsnp": "rs12967284",
"frequency_reference_population": 0.34156832,
"hom_count_reference_population": 9186,
"allele_count_reference_population": 51930,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.341568,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 51930,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 9186,
"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": -0.194,
"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": "ENST00000409402.9",
"gene_symbol": "SPIRE1",
"hgnc_id": 30622,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.729+3377G>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
}