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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: 6-158257599-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=158257599&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 158257599,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000620026.1",
"consequences": [
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "n.68+25296A>G",
"hgvs_p": null,
"transcript": "ENST00000620026.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 680,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.-1967+25296A>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": 1,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.-2082-24664A>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": 1,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.-2121-9635A>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": 2,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.-2384-5046A>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": 1,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.-1967+25296A>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,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.-2082-24664A>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": 2,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.-2083+12266A>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": 1,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.-2143-24664A>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,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12018,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.-2121-9635A>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,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11996,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.-2083+24496A>G",
"hgvs_p": null,
"transcript": "XM_047419087.1",
"protein_id": "XP_047275043.1",
"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": 12170,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.-2082-24664A>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,
"cdna_end": null,
"cdna_length": 9456,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"hgvs_c": "c.-1967+25296A>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,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TULP4",
"gene_hgnc_id": 15530,
"dbsnp": "rs262825",
"frequency_reference_population": 0.459605,
"hom_count_reference_population": 16389,
"allele_count_reference_population": 69814,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.459605,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 69814,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 16389,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9900000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.214,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "ENST00000620026.1",
"gene_symbol": "TULP4",
"hgnc_id": 15530,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.68+25296A>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
}