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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: 19-58067210-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58067210&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 58067210,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000313434.10",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.726C>T",
"hgvs_p": "p.Tyr242Tyr",
"transcript": "NM_001289401.2",
"protein_id": "NP_001276330.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 658,
"cds_start": 726,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 3334,
"mane_select": "ENST00000313434.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.726C>T",
"hgvs_p": "p.Tyr242Tyr",
"transcript": "ENST00000313434.10",
"protein_id": "ENSP00000321406.5",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 658,
"cds_start": 726,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 3334,
"mane_select": "NM_001289401.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.798C>T",
"hgvs_p": "p.Tyr266Tyr",
"transcript": "ENST00000401053.8",
"protein_id": "ENSP00000441410.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 682,
"cds_start": 798,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.798C>T",
"hgvs_p": "p.Tyr266Tyr",
"transcript": "NM_007134.1",
"protein_id": "NP_009065.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 682,
"cds_start": 798,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Tyr254Tyr",
"transcript": "NM_003436.4",
"protein_id": "NP_003427.3",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 670,
"cds_start": 762,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 3365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Tyr254Tyr",
"transcript": "ENST00000511556.5",
"protein_id": "ENSP00000422074.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 670,
"cds_start": 762,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.600C>T",
"hgvs_p": "p.Tyr200Tyr",
"transcript": "NM_001289402.2",
"protein_id": "NP_001276331.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 616,
"cds_start": 600,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.600C>T",
"hgvs_p": "p.Tyr200Tyr",
"transcript": "ENST00000506786.1",
"protein_id": "ENSP00000427691.1",
"transcript_support_level": 2,
"aa_start": 200,
"aa_end": null,
"aa_length": 616,
"cds_start": 600,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Tyr254Tyr",
"transcript": "NM_001164530.1",
"protein_id": "NP_001158002.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 390,
"cds_start": 762,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Tyr254Tyr",
"transcript": "ENST00000359978.10",
"protein_id": "ENSP00000369437.4",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 390,
"cds_start": 762,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Tyr254Tyr",
"transcript": "XM_005259211.2",
"protein_id": "XP_005259268.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 670,
"cds_start": 762,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Tyr254Tyr",
"transcript": "XM_006723362.5",
"protein_id": "XP_006723425.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 670,
"cds_start": 762,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Tyr254Tyr",
"transcript": "XM_006723363.4",
"protein_id": "XP_006723426.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 670,
"cds_start": 762,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.726C>T",
"hgvs_p": "p.Tyr242Tyr",
"transcript": "XM_047439362.1",
"protein_id": "XP_047295318.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 658,
"cds_start": 726,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 3372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.726C>T",
"hgvs_p": "p.Tyr242Tyr",
"transcript": "XM_047439363.1",
"protein_id": "XP_047295319.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 658,
"cds_start": 726,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Tyr212Tyr",
"transcript": "XM_047439364.1",
"protein_id": "XP_047295320.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 628,
"cds_start": 636,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "c.*55C>T",
"hgvs_p": null,
"transcript": "NM_001164529.1",
"protein_id": "NP_001158001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2951,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"hgvs_c": "n.160+5504C>T",
"hgvs_p": null,
"transcript": "ENST00000515535.1",
"protein_id": "ENSP00000471344.1",
"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": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF135",
"gene_hgnc_id": 12919,
"dbsnp": "rs2229375",
"frequency_reference_population": 0.39383438,
"hom_count_reference_population": 127026,
"allele_count_reference_population": 635592,
"gnomad_exomes_af": 0.395028,
"gnomad_genomes_af": 0.382355,
"gnomad_exomes_ac": 577484,
"gnomad_genomes_ac": 58108,
"gnomad_exomes_homalt": 115796,
"gnomad_genomes_homalt": 11230,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003000000026077032,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.003,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.555,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000313434.10",
"gene_symbol": "ZNF135",
"hgnc_id": 12919,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.726C>T",
"hgvs_p": "p.Tyr242Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}