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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: 6-158465959-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=158465959&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 158465959,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000367097.8",
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1026+4230A>G",
"hgvs_p": null,
"transcript": "NM_020245.5",
"protein_id": "NP_064630.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1543,
"cds_start": -4,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11318,
"mane_select": "ENST00000367097.8",
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1026+4230A>G",
"hgvs_p": null,
"transcript": "ENST00000367097.8",
"protein_id": "ENSP00000356064.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1543,
"cds_start": -4,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11318,
"mane_select": "NM_020245.5",
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1026+4230A>G",
"hgvs_p": null,
"transcript": "ENST00000367094.6",
"protein_id": "ENSP00000356061.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5170,
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1026+4230A>G",
"hgvs_p": null,
"transcript": "NM_001007466.3",
"protein_id": "NP_001007467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8817,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "n.78+4230A>G",
"hgvs_p": null,
"transcript": "ENST00000613390.1",
"protein_id": "ENSP00000481804.1",
"transcript_support_level": 5,
"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": 804,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "n.1598+4230A>G",
"hgvs_p": null,
"transcript": "ENST00000616856.1",
"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": 2307,
"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": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1095+423A>G",
"hgvs_p": null,
"transcript": "XM_011535946.2",
"protein_id": "XP_011534248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": -4,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11910,
"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": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1095+423A>G",
"hgvs_p": null,
"transcript": "XM_047419079.1",
"protein_id": "XP_047275035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": -4,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12026,
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1095+423A>G",
"hgvs_p": null,
"transcript": "XM_047419081.1",
"protein_id": "XP_047275037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": -4,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12065,
"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": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1095+423A>G",
"hgvs_p": null,
"transcript": "XM_047419082.1",
"protein_id": "XP_047275038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": -4,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12541,
"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": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1026+4230A>G",
"hgvs_p": null,
"transcript": "XM_017011070.2",
"protein_id": "XP_016866559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1543,
"cds_start": -4,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11841,
"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": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1026+4230A>G",
"hgvs_p": null,
"transcript": "XM_047419083.1",
"protein_id": "XP_047275039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1543,
"cds_start": -4,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11957,
"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": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1026+4230A>G",
"hgvs_p": null,
"transcript": "XM_047419084.1",
"protein_id": "XP_047275040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1543,
"cds_start": -4,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12111,
"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": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1026+4230A>G",
"hgvs_p": null,
"transcript": "XM_047419085.1",
"protein_id": "XP_047275041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1543,
"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": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1026+4230A>G",
"hgvs_p": null,
"transcript": "XM_047419086.1",
"protein_id": "XP_047275042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1543,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 11996,
"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": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1026+4230A>G",
"hgvs_p": null,
"transcript": "XM_047419087.1",
"protein_id": "XP_047275043.1",
"transcript_support_level": null,
"aa_start": 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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1026+4230A>G",
"hgvs_p": null,
"transcript": "XM_047419088.1",
"protein_id": "XP_047275044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
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"cdna_length": 9456,
"mane_select": null,
"mane_plus": null,
"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": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.1026+4230A>G",
"hgvs_p": null,
"transcript": "XM_047419089.1",
"protein_id": "XP_047275045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 9340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"dbsnp": "rs585078",
"frequency_reference_population": 0.4178185,
"hom_count_reference_population": 14585,
"allele_count_reference_population": 63541,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.417818,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 63541,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 14585,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"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": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.668,
"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": "ENST00000367097.8",
"gene_symbol": "TULP4",
"hgnc_id": 15530,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1026+4230A>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
}