← Back to variant description
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: 6-87155610-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=87155610&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 87155610,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015021.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.19G>A",
"hgvs_p": "p.Glu7Lys",
"transcript": "NM_015021.3",
"protein_id": "NP_055836.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 2723,
"cds_start": 19,
"cds_end": null,
"cds_length": 8172,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 12341,
"mane_select": "ENST00000369577.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.19G>A",
"hgvs_p": "p.Glu7Lys",
"transcript": "ENST00000369577.8",
"protein_id": "ENSP00000358590.3",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 2723,
"cds_start": 19,
"cds_end": null,
"cds_length": 8172,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 12341,
"mane_select": "NM_015021.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.19G>A",
"hgvs_p": "p.Glu7Lys",
"transcript": "ENST00000392985.4",
"protein_id": "ENSP00000430569.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 66,
"cds_start": 19,
"cds_end": null,
"cds_length": 201,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.19G>A",
"hgvs_p": "p.Glu7Lys",
"transcript": "ENST00000339907.8",
"protein_id": "ENSP00000342847.4",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 2718,
"cds_start": 19,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 30,
"cdna_end": null,
"cdna_length": 8287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.19G>A",
"hgvs_p": "p.Glu7Lys",
"transcript": "ENST00000699914.1",
"protein_id": "ENSP00000514683.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 2328,
"cds_start": 19,
"cds_end": null,
"cds_length": 6989,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 7334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "n.46G>A",
"hgvs_p": null,
"transcript": "ENST00000369578.6",
"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": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "n.35G>A",
"hgvs_p": null,
"transcript": "ENST00000518845.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "n.42G>A",
"hgvs_p": null,
"transcript": "ENST00000699924.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "n.19G>A",
"hgvs_p": null,
"transcript": "ENST00000699925.1",
"protein_id": "ENSP00000514691.1",
"transcript_support_level": null,
"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": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "n.18G>A",
"hgvs_p": null,
"transcript": "ENST00000699990.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.-547G>A",
"hgvs_p": null,
"transcript": "NM_001351444.2",
"protein_id": "NP_001338373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2583,
"cds_start": -4,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.-715G>A",
"hgvs_p": null,
"transcript": "XM_047418459.1",
"protein_id": "XP_047274415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2583,
"cds_start": -4,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12654,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.165+249G>A",
"hgvs_p": null,
"transcript": "ENST00000699923.1",
"protein_id": "ENSP00000514690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.-36G>A",
"hgvs_p": null,
"transcript": "ENST00000466062.3",
"protein_id": "ENSP00000428073.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.-11G>A",
"hgvs_p": null,
"transcript": "ENST00000496806.2",
"protein_id": "ENSP00000428857.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272008",
"gene_hgnc_id": null,
"hgvs_c": "n.-119C>T",
"hgvs_p": null,
"transcript": "ENST00000743327.1",
"protein_id": null,
"transcript_support_level": null,
"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": 733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"dbsnp": "rs891555279",
"frequency_reference_population": 0.00000379331,
"hom_count_reference_population": 1,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000349782,
"gnomad_genomes_af": 0.0000065672,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2273939847946167,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.3626,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.79,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015021.3",
"gene_symbol": "ZNF292",
"hgnc_id": 18410,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.19G>A",
"hgvs_p": "p.Glu7Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000743327.1",
"gene_symbol": "ENSG00000272008",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-119C>T",
"hgvs_p": null
}
],
"clinvar_disease": "ZNF292-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "ZNF292-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}