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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: 15-42417924-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42417924&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42417924,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001366845.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.5545G>A",
"hgvs_p": "p.Val1849Ile",
"transcript": "NM_001366845.3",
"protein_id": "NP_001353774.1",
"transcript_support_level": null,
"aa_start": 1849,
"aa_end": null,
"aa_length": 1906,
"cds_start": 5545,
"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": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.5545G>A",
"hgvs_p": "p.Val1849Ile",
"transcript": "ENST00000564754.7",
"protein_id": "ENSP00000456845.2",
"transcript_support_level": 1,
"aa_start": 1849,
"aa_end": null,
"aa_length": 1906,
"cds_start": 5545,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.5476G>A",
"hgvs_p": "p.Val1826Ile",
"transcript": "ENST00000263805.8",
"protein_id": "ENSP00000263805.4",
"transcript_support_level": 1,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1883,
"cds_start": 5476,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.3160G>A",
"hgvs_p": "p.Val1054Ile",
"transcript": "ENST00000565380.5",
"protein_id": "ENSP00000455674.1",
"transcript_support_level": 1,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3160,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.3031G>A",
"hgvs_p": "p.Val1011Ile",
"transcript": "ENST00000565611.5",
"protein_id": "ENSP00000457637.1",
"transcript_support_level": 1,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3031,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2374G>A",
"hgvs_p": "p.Val792Ile",
"transcript": "ENST00000565500.5",
"protein_id": "ENSP00000456604.1",
"transcript_support_level": 1,
"aa_start": 792,
"aa_end": null,
"aa_length": 849,
"cds_start": 2374,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.5476G>A",
"hgvs_p": "p.Val1826Ile",
"transcript": "NM_022473.3",
"protein_id": "NP_071918.1",
"transcript_support_level": null,
"aa_start": 1826,
"aa_end": null,
"aa_length": 1883,
"cds_start": 5476,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.5344G>A",
"hgvs_p": "p.Val1782Ile",
"transcript": "NM_001381993.1",
"protein_id": "NP_001368922.1",
"transcript_support_level": null,
"aa_start": 1782,
"aa_end": null,
"aa_length": 1839,
"cds_start": 5344,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.5284G>A",
"hgvs_p": "p.Val1762Ile",
"transcript": "NM_001366846.3",
"protein_id": "NP_001353775.1",
"transcript_support_level": null,
"aa_start": 1762,
"aa_end": null,
"aa_length": 1819,
"cds_start": 5284,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.3361G>A",
"hgvs_p": "p.Val1121Ile",
"transcript": "NM_001381994.1",
"protein_id": "NP_001368923.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3361,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.3178G>A",
"hgvs_p": "p.Val1060Ile",
"transcript": "NM_001381995.1",
"protein_id": "NP_001368924.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3178,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.3160G>A",
"hgvs_p": "p.Val1054Ile",
"transcript": "NM_001284307.4",
"protein_id": "NP_001271236.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3160,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.3031G>A",
"hgvs_p": "p.Val1011Ile",
"transcript": "NM_001284306.2",
"protein_id": "NP_001271235.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3031,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2899G>A",
"hgvs_p": "p.Val967Ile",
"transcript": "NM_001381998.1",
"protein_id": "NP_001368927.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2899,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2899G>A",
"hgvs_p": "p.Val967Ile",
"transcript": "NM_001366844.3",
"protein_id": "NP_001353773.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2899,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2707G>A",
"hgvs_p": "p.Val903Ile",
"transcript": "NM_001381996.1",
"protein_id": "NP_001368925.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 960,
"cds_start": 2707,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.2683G>A",
"hgvs_p": "p.Val895Ile",
"transcript": "NM_001381997.1",
"protein_id": "NP_001368926.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 952,
"cds_start": 2683,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.5083G>A",
"hgvs_p": "p.Val1695Ile",
"transcript": "XM_047432936.1",
"protein_id": "XP_047288892.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1752,
"cds_start": 5083,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "c.607-2448G>A",
"hgvs_p": null,
"transcript": "ENST00000569648.5",
"protein_id": "ENSP00000456191.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"hgvs_c": "n.541G>A",
"hgvs_p": null,
"transcript": "ENST00000568906.5",
"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": "retained_intron",
"feature": "ENST00000568906.5"
}
],
"gene_symbol": "ZNF106",
"gene_hgnc_id": 12886,
"dbsnp": "rs138254844",
"frequency_reference_population": 0.000095440075,
"hom_count_reference_population": 0,
"allele_count_reference_population": 154,
"gnomad_exomes_af": 0.0000978535,
"gnomad_genomes_af": 0.0000722686,
"gnomad_exomes_ac": 143,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1471080183982849,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.1085,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.818,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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_001366845.3",
"gene_symbol": "ZNF106",
"hgnc_id": 12886,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5545G>A",
"hgvs_p": "p.Val1849Ile"
}
],
"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
}