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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: 19-21405184-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=21405184&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 21405184,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001076678.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Cys29Tyr",
"transcript": "NM_001076678.3",
"protein_id": "NP_001070146.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 774,
"cds_start": 86,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": "ENST00000392288.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Cys29Tyr",
"transcript": "ENST00000392288.7",
"protein_id": "ENSP00000376110.2",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 774,
"cds_start": 86,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": "NM_001076678.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Cys29Tyr",
"transcript": "ENST00000339914.6",
"protein_id": "ENSP00000340651.6",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 103,
"cds_start": 86,
"cds_end": null,
"cds_length": 312,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Cys29Tyr",
"transcript": "ENST00000596302.5",
"protein_id": "ENSP00000469368.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 95,
"cds_start": 86,
"cds_end": null,
"cds_length": 288,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "ENSG00000269237",
"gene_hgnc_id": null,
"hgvs_c": "n.26G>A",
"hgvs_p": null,
"transcript": "ENST00000600810.1",
"protein_id": "ENSP00000473166.1",
"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": 472,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.-132+7917G>A",
"hgvs_p": null,
"transcript": "ENST00000355504.4",
"protein_id": "ENSP00000347691.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": -4,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Cys29Tyr",
"transcript": "NM_145326.3",
"protein_id": "NP_663299.2",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 103,
"cds_start": 86,
"cds_end": null,
"cds_length": 312,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Cys29Tyr",
"transcript": "ENST00000594390.5",
"protein_id": "ENSP00000469680.1",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 94,
"cds_start": 86,
"cds_end": null,
"cds_length": 285,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Cys29Tyr",
"transcript": "XM_047438677.1",
"protein_id": "XP_047294633.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 775,
"cds_start": 86,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 5026,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "n.*94G>A",
"hgvs_p": null,
"transcript": "ENST00000596815.1",
"protein_id": "ENSP00000469170.1",
"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": 496,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.-38G>A",
"hgvs_p": null,
"transcript": "XM_047438678.1",
"protein_id": "XP_047294634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": -4,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5181,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.-38G>A",
"hgvs_p": null,
"transcript": "XM_047438679.1",
"protein_id": "XP_047294635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": -4,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4930,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.-988G>A",
"hgvs_p": null,
"transcript": "XM_047438680.1",
"protein_id": "XP_047294636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": -4,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8453,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.-847G>A",
"hgvs_p": null,
"transcript": "XM_047438681.1",
"protein_id": "XP_047294637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": -4,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "n.*94G>A",
"hgvs_p": null,
"transcript": "ENST00000596815.1",
"protein_id": "ENSP00000469170.1",
"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": 496,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "c.-132+7917G>A",
"hgvs_p": null,
"transcript": "NM_175910.7",
"protein_id": "NP_787106.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": -4,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4800,
"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": "ZNF493",
"gene_hgnc_id": 23708,
"hgvs_c": "n.-94G>A",
"hgvs_p": null,
"transcript": "ENST00000598152.1",
"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": 616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF493",
"gene_hgnc_id": 23708,
"dbsnp": "rs181874152",
"frequency_reference_population": 0.0000013681931,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136819,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1215553879737854,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.799,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001076678.3",
"gene_symbol": "ZNF493",
"hgnc_id": 23708,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Cys29Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000600810.1",
"gene_symbol": "ENSG00000269237",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.26G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}