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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: 16-67842862-G-GGCAGCAGCAGCAACAGCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67842862&ref=G&alt=GGCAGCAGCAGCAACAGCA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67842862,
"ref": "G",
"alt": "GGCAGCAGCAGCAACAGCA",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_020457.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "QQQQQQQ",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THAP11",
"gene_hgnc_id": 23194,
"hgvs_c": "c.330_347dupGCAGCAGCAACAGCAGCA",
"hgvs_p": "p.Gln111_Gln116dup",
"transcript": "NM_020457.3",
"protein_id": "NP_065190.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 314,
"cds_start": 348,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303596.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020457.3"
},
{
"aa_ref": "Q",
"aa_alt": "QQQQQQQ",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THAP11",
"gene_hgnc_id": 23194,
"hgvs_c": "c.330_347dupGCAGCAGCAACAGCAGCA",
"hgvs_p": "p.Gln111_Gln116dup",
"transcript": "ENST00000303596.3",
"protein_id": "ENSP00000304689.1",
"transcript_support_level": 6,
"aa_start": 116,
"aa_end": null,
"aa_length": 314,
"cds_start": 348,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020457.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303596.3"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.-492+4521_-492+4538dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "NM_025082.4",
"protein_id": "NP_079358.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000562787.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025082.4"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.-492+4521_-492+4538dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000562787.6",
"protein_id": "ENSP00000457810.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025082.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562787.6"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.-635+4700_-635+4717dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000969291.1",
"protein_id": "ENSP00000639350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969291.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.-640+4700_-640+4717dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000969292.1",
"protein_id": "ENSP00000639351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969292.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.-415+78_-415+95dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000969293.1",
"protein_id": "ENSP00000639352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969293.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.-366+4700_-366+4717dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000561593.5",
"protein_id": "ENSP00000454481.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": null,
"cds_end": null,
"cds_length": 194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561593.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.-371+4700_-371+4717dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000565114.5",
"protein_id": "ENSP00000455638.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": null,
"cds_end": null,
"cds_length": 146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565114.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.-371+78_-371+95dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000567985.5",
"protein_id": "ENSP00000460542.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 5,
"cds_start": null,
"cds_end": null,
"cds_length": 20,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567985.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.348+78_348+95dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000564144.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000564144.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.110+119_110+136dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000564346.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000564346.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.52+3892_52+3909dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000565132.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000565132.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.172+78_172+95dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000565385.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000565385.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.260+151_260+168dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000567482.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000567482.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.173+4700_173+4717dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000568652.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000568652.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.232+4700_232+4717dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000568765.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000568765.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.339+119_339+136dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000569019.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000569019.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.176+4700_176+4717dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null,
"transcript": "ENST00000569094.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000569094.5"
}
],
"gene_symbol": "THAP11",
"gene_hgnc_id": 23194,
"dbsnp": "rs752755017",
"frequency_reference_population": 0.0006028167,
"hom_count_reference_population": 0,
"allele_count_reference_population": 91,
"gnomad_exomes_af": 0.0000926541,
"gnomad_genomes_af": 0.000602817,
"gnomad_exomes_ac": 135,
"gnomad_genomes_ac": 91,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.397,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3,BP6_Moderate",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_020457.3",
"gene_symbol": "THAP11",
"hgnc_id": 23194,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.330_347dupGCAGCAGCAACAGCAGCA",
"hgvs_p": "p.Gln111_Gln116dup"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_025082.4",
"gene_symbol": "CENPT",
"hgnc_id": 25787,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-492+4521_-492+4538dupTGCTGTTGCTGCTGCTGC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}