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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: 17-67085903-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=67085903&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 67085903,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000358691.10",
"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": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"hgvs_c": "c.5494+926A>G",
"hgvs_p": null,
"transcript": "NM_014877.4",
"protein_id": "NP_055692.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1942,
"cds_start": -4,
"cds_end": null,
"cds_length": 5829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13817,
"mane_select": "ENST00000358691.10",
"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": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"hgvs_c": "c.5494+926A>G",
"hgvs_p": null,
"transcript": "ENST00000358691.10",
"protein_id": "ENSP00000351524.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1942,
"cds_start": -4,
"cds_end": null,
"cds_length": 5829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13817,
"mane_select": "NM_014877.4",
"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": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"hgvs_c": "c.5497+926A>G",
"hgvs_p": null,
"transcript": "ENST00000580168.5",
"protein_id": "ENSP00000464512.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1943,
"cds_start": -4,
"cds_end": null,
"cds_length": 5832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6279,
"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": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"hgvs_c": "c.5497+926A>G",
"hgvs_p": null,
"transcript": "NM_001330447.2",
"protein_id": "NP_001317376.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1943,
"cds_start": -4,
"cds_end": null,
"cds_length": 5832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13820,
"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": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"hgvs_c": "n.*2161+926A>G",
"hgvs_p": null,
"transcript": "ENST00000579953.5",
"protein_id": "ENSP00000463727.1",
"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": 6365,
"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": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"hgvs_c": "c.5578+926A>G",
"hgvs_p": null,
"transcript": "XM_006722214.5",
"protein_id": "XP_006722277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1970,
"cds_start": -4,
"cds_end": null,
"cds_length": 5913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13901,
"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": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"hgvs_c": "c.5578+926A>G",
"hgvs_p": null,
"transcript": "XM_011525544.2",
"protein_id": "XP_011523846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1970,
"cds_start": -4,
"cds_end": null,
"cds_length": 5913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14027,
"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": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"hgvs_c": "c.5575+926A>G",
"hgvs_p": null,
"transcript": "XM_005257888.6",
"protein_id": "XP_005257945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1969,
"cds_start": -4,
"cds_end": null,
"cds_length": 5910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13898,
"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": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"hgvs_c": "c.5497+926A>G",
"hgvs_p": null,
"transcript": "XM_047437224.1",
"protein_id": "XP_047293180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1943,
"cds_start": -4,
"cds_end": null,
"cds_length": 5832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13946,
"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": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"hgvs_c": "c.5494+926A>G",
"hgvs_p": null,
"transcript": "XM_047437225.1",
"protein_id": "XP_047293181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1942,
"cds_start": -4,
"cds_end": null,
"cds_length": 5829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13943,
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"hgvs_c": "c.4873+926A>G",
"hgvs_p": null,
"transcript": "XM_047437226.1",
"protein_id": "XP_047293182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1735,
"cds_start": -4,
"cds_end": null,
"cds_length": 5208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13217,
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"hgvs_c": "c.4318+926A>G",
"hgvs_p": null,
"transcript": "XM_047437227.1",
"protein_id": "XP_047293183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1550,
"cds_start": -4,
"cds_end": null,
"cds_length": 4653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HELZ",
"gene_hgnc_id": 16878,
"dbsnp": "rs10491170",
"frequency_reference_population": 0.242813,
"hom_count_reference_population": 4536,
"allele_count_reference_population": 36944,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.242813,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 36944,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 4536,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.243,
"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": "ENST00000358691.10",
"gene_symbol": "HELZ",
"hgnc_id": 16878,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5494+926A>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
}