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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: 7-138598335-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=138598335&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 138598335,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001139456.2",
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.1354-1805A>G",
"hgvs_p": null,
"transcript": "NM_001139456.2",
"protein_id": "NP_001132928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": "ENST00000674285.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139456.2"
},
{
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.1354-1805A>G",
"hgvs_p": null,
"transcript": "ENST00000674285.1",
"protein_id": "ENSP00000501457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": "NM_001139456.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674285.1"
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.898-1805A>G",
"hgvs_p": null,
"transcript": "ENST00000436657.5",
"protein_id": "ENSP00000417018.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436657.5"
},
{
"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": 13,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.1354-1805A>G",
"hgvs_p": null,
"transcript": "ENST00000419765.4",
"protein_id": "ENSP00000405482.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419765.4"
},
{
"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": 13,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.1282-1805A>G",
"hgvs_p": null,
"transcript": "ENST00000867898.1",
"protein_id": "ENSP00000537957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 468,
"cds_start": null,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867898.1"
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.1081-1805A>G",
"hgvs_p": null,
"transcript": "NM_001331192.1",
"protein_id": "NP_001318121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": null,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331192.1"
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.994-1805A>G",
"hgvs_p": null,
"transcript": "ENST00000421622.5",
"protein_id": "ENSP00000412830.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421622.5"
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.898-1805A>G",
"hgvs_p": null,
"transcript": "NM_174959.3",
"protein_id": "NP_777619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174959.3"
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.898-1805A>G",
"hgvs_p": null,
"transcript": "ENST00000288513.9",
"protein_id": "ENSP00000288513.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288513.9"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.178-1805A>G",
"hgvs_p": null,
"transcript": "ENST00000463557.1",
"protein_id": "ENSP00000501339.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463557.1"
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.1081-1805A>G",
"hgvs_p": null,
"transcript": "XM_024446654.2",
"protein_id": "XP_024302422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": null,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446654.2"
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.1081-1805A>G",
"hgvs_p": null,
"transcript": "XM_024446655.2",
"protein_id": "XP_024302423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": null,
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"cds_length": 1206,
"cdna_start": null,
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"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446655.2"
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.991-1805A>G",
"hgvs_p": null,
"transcript": "XM_047419887.1",
"protein_id": "XP_047275843.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419887.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.898-1805A>G",
"hgvs_p": null,
"transcript": "XM_011515797.3",
"protein_id": "XP_011514099.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515797.3"
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.898-1805A>G",
"hgvs_p": null,
"transcript": "XM_017011747.2",
"protein_id": "XP_016867236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011747.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.898-1805A>G",
"hgvs_p": null,
"transcript": "XM_017011748.2",
"protein_id": "XP_016867237.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011748.2"
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "c.808-1805A>G",
"hgvs_p": null,
"transcript": "XM_047419888.1",
"protein_id": "XP_047275844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419888.1"
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "n.613-1086A>G",
"hgvs_p": null,
"transcript": "ENST00000441685.5",
"protein_id": "ENSP00000393487.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5761,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000441685.5"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"hgvs_c": "n.217-1805A>G",
"hgvs_p": null,
"transcript": "ENST00000478865.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478865.5"
}
],
"gene_symbol": "SVOPL",
"gene_hgnc_id": 27034,
"dbsnp": "rs1371463",
"frequency_reference_population": 0.76659566,
"hom_count_reference_population": 46002,
"allele_count_reference_population": 116590,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.766596,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 116590,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 46002,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9700000286102295,
"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": -0.97,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.299,
"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": "NM_001139456.2",
"gene_symbol": "SVOPL",
"hgnc_id": 27034,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1354-1805A>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
}