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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: 15-42428070-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42428070&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42428070,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001366845.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.4946G>T",
"hgvs_p": "p.Arg1649Leu",
"transcript": "NM_001366845.3",
"protein_id": "NP_001353774.1",
"transcript_support_level": null,
"aa_start": 1649,
"aa_end": null,
"aa_length": 1906,
"cds_start": 4946,
"cds_end": null,
"cds_length": 5721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000564754.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366845.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.4946G>T",
"hgvs_p": "p.Arg1649Leu",
"transcript": "ENST00000564754.7",
"protein_id": "ENSP00000456845.2",
"transcript_support_level": 1,
"aa_start": 1649,
"aa_end": null,
"aa_length": 1906,
"cds_start": 4946,
"cds_end": null,
"cds_length": 5721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366845.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564754.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.4877G>T",
"hgvs_p": "p.Arg1626Leu",
"transcript": "ENST00000263805.8",
"protein_id": "ENSP00000263805.4",
"transcript_support_level": 1,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1883,
"cds_start": 4877,
"cds_end": null,
"cds_length": 5652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263805.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2561G>T",
"hgvs_p": "p.Arg854Leu",
"transcript": "ENST00000565380.5",
"protein_id": "ENSP00000455674.1",
"transcript_support_level": 1,
"aa_start": 854,
"aa_end": null,
"aa_length": 1111,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565380.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2432G>T",
"hgvs_p": "p.Arg811Leu",
"transcript": "ENST00000565611.5",
"protein_id": "ENSP00000457637.1",
"transcript_support_level": 1,
"aa_start": 811,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2432,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565611.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.1775G>T",
"hgvs_p": "p.Arg592Leu",
"transcript": "ENST00000565500.5",
"protein_id": "ENSP00000456604.1",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 849,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565500.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.4877G>T",
"hgvs_p": "p.Arg1626Leu",
"transcript": "NM_022473.3",
"protein_id": "NP_071918.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1883,
"cds_start": 4877,
"cds_end": null,
"cds_length": 5652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022473.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.4745G>T",
"hgvs_p": "p.Arg1582Leu",
"transcript": "NM_001381993.1",
"protein_id": "NP_001368922.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4745,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381993.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.4685G>T",
"hgvs_p": "p.Arg1562Leu",
"transcript": "NM_001366846.3",
"protein_id": "NP_001353775.1",
"transcript_support_level": null,
"aa_start": 1562,
"aa_end": null,
"aa_length": 1819,
"cds_start": 4685,
"cds_end": null,
"cds_length": 5460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366846.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2762G>T",
"hgvs_p": "p.Arg921Leu",
"transcript": "NM_001381994.1",
"protein_id": "NP_001368923.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1178,
"cds_start": 2762,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381994.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2579G>T",
"hgvs_p": "p.Arg860Leu",
"transcript": "NM_001381995.1",
"protein_id": "NP_001368924.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2579,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381995.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2561G>T",
"hgvs_p": "p.Arg854Leu",
"transcript": "NM_001284307.4",
"protein_id": "NP_001271236.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1111,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284307.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2432G>T",
"hgvs_p": "p.Arg811Leu",
"transcript": "NM_001284306.2",
"protein_id": "NP_001271235.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2432,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284306.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2300G>T",
"hgvs_p": "p.Arg767Leu",
"transcript": "NM_001381998.1",
"protein_id": "NP_001368927.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2300,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381998.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2300G>T",
"hgvs_p": "p.Arg767Leu",
"transcript": "NM_001366844.3",
"protein_id": "NP_001353773.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2300,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366844.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2108G>T",
"hgvs_p": "p.Arg703Leu",
"transcript": "NM_001381996.1",
"protein_id": "NP_001368925.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 960,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381996.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2084G>T",
"hgvs_p": "p.Arg695Leu",
"transcript": "NM_001381997.1",
"protein_id": "NP_001368926.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 952,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381997.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.35G>T",
"hgvs_p": "p.Arg12Leu",
"transcript": "ENST00000569648.5",
"protein_id": "ENSP00000456191.1",
"transcript_support_level": 3,
"aa_start": 12,
"aa_end": null,
"aa_length": 217,
"cds_start": 35,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569648.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.4484G>T",
"hgvs_p": "p.Arg1495Leu",
"transcript": "XM_047432936.1",
"protein_id": "XP_047288892.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1752,
"cds_start": 4484,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432936.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310324",
"gene_hgnc_id": null,
"hgvs_c": "n.199C>A",
"hgvs_p": null,
"transcript": "ENST00000849072.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000849072.1"
}
],
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"dbsnp": "rs149732932",
"frequency_reference_population": 0.000053899872,
"hom_count_reference_population": 0,
"allele_count_reference_population": 87,
"gnomad_exomes_af": 0.0000307835,
"gnomad_genomes_af": 0.000275804,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 42,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14254236221313477,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.6789,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.799,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001366845.3",
"gene_symbol": "ZNF106",
"hgnc_id": 12886,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4946G>T",
"hgvs_p": "p.Arg1649Leu"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000849072.1",
"gene_symbol": "ENSG00000310324",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.199C>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
}