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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: 4-373410-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=373410&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 373410,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000240499.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF141",
"gene_hgnc_id": 12926,
"hgvs_c": "c.973A>G",
"hgvs_p": "p.Thr325Ala",
"transcript": "NM_003441.4",
"protein_id": "NP_003432.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 474,
"cds_start": 973,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 12601,
"mane_select": "ENST00000240499.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF141",
"gene_hgnc_id": 12926,
"hgvs_c": "c.973A>G",
"hgvs_p": "p.Thr325Ala",
"transcript": "ENST00000240499.8",
"protein_id": "ENSP00000240499.7",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 474,
"cds_start": 973,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 12601,
"mane_select": "NM_003441.4",
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF141",
"gene_hgnc_id": 12926,
"hgvs_c": "c.570+403A>G",
"hgvs_p": null,
"transcript": "ENST00000512994.5",
"protein_id": "ENSP00000425799.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF141",
"gene_hgnc_id": 12926,
"hgvs_c": "c.745A>G",
"hgvs_p": "p.Thr249Ala",
"transcript": "NM_001348277.2",
"protein_id": "NP_001335206.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 398,
"cds_start": 745,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 12378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF141",
"gene_hgnc_id": 12926,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Thr385Ala",
"transcript": "XM_017008591.3",
"protein_id": "XP_016864080.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 534,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 4772,
"cdna_end": null,
"cdna_length": 16230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF141",
"gene_hgnc_id": 12926,
"hgvs_c": "c.1057A>G",
"hgvs_p": "p.Thr353Ala",
"transcript": "XM_011513562.4",
"protein_id": "XP_011511864.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 502,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 4676,
"cdna_end": null,
"cdna_length": 16134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF141",
"gene_hgnc_id": 12926,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Thr293Ala",
"transcript": "XM_047416147.1",
"protein_id": "XP_047272103.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 442,
"cds_start": 877,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 12582,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF141",
"gene_hgnc_id": 12926,
"hgvs_c": "c.570+403A>G",
"hgvs_p": null,
"transcript": "NM_001348278.2",
"protein_id": "NP_001335207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2514,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF141",
"gene_hgnc_id": 12926,
"hgvs_c": "c.227-9685A>G",
"hgvs_p": null,
"transcript": "ENST00000505939.5",
"protein_id": "ENSP00000424403.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF141",
"gene_hgnc_id": 12926,
"dbsnp": "rs114931928",
"frequency_reference_population": 0.0000049651753,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478856,
"gnomad_genomes_af": 0.00000669317,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028757601976394653,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.215,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.191,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000240499.8",
"gene_symbol": "ZNF141",
"hgnc_id": 12926,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.973A>G",
"hgvs_p": "p.Thr325Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}