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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: 2-10047747-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=10047747&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 10047747,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000305883.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF11",
"gene_hgnc_id": 11811,
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asp137Gly",
"transcript": "NM_003597.5",
"protein_id": "NP_003588.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 512,
"cds_start": 410,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 4035,
"mane_select": "ENST00000305883.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF11",
"gene_hgnc_id": 11811,
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asp137Gly",
"transcript": "ENST00000305883.6",
"protein_id": "ENSP00000307023.1",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 512,
"cds_start": 410,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 4035,
"mane_select": "NM_003597.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF11",
"gene_hgnc_id": 11811,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asp120Gly",
"transcript": "NM_001177716.2",
"protein_id": "NP_001171187.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 495,
"cds_start": 359,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF11",
"gene_hgnc_id": 11811,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asp120Gly",
"transcript": "NM_001177718.2",
"protein_id": "NP_001171189.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 495,
"cds_start": 359,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF11",
"gene_hgnc_id": 11811,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asp120Gly",
"transcript": "ENST00000535335.1",
"protein_id": "ENSP00000442722.1",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 495,
"cds_start": 359,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF11",
"gene_hgnc_id": 11811,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asp120Gly",
"transcript": "ENST00000540845.5",
"protein_id": "ENSP00000444690.1",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 495,
"cds_start": 359,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "KLF11",
"gene_hgnc_id": 11811,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asp120Gly",
"transcript": "ENST00000448523.5",
"protein_id": "ENSP00000387866.1",
"transcript_support_level": 4,
"aa_start": 120,
"aa_end": null,
"aa_length": 162,
"cds_start": 359,
"cds_end": null,
"cds_length": 491,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "KLF11",
"gene_hgnc_id": 11811,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asp120Gly",
"transcript": "ENST00000401510.5",
"protein_id": "ENSP00000386058.1",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 126,
"cds_start": 359,
"cds_end": null,
"cds_length": 382,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "KLF11",
"gene_hgnc_id": 11811,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asp120Gly",
"transcript": "ENST00000440320.5",
"protein_id": "ENSP00000388263.1",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 121,
"cds_start": 359,
"cds_end": null,
"cds_length": 367,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF11",
"gene_hgnc_id": 11811,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asp120Gly",
"transcript": "XM_047446025.1",
"protein_id": "XP_047301981.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 495,
"cds_start": 359,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KLF11",
"gene_hgnc_id": 11811,
"dbsnp": "rs145933214",
"frequency_reference_population": 0.00056329544,
"hom_count_reference_population": 7,
"allele_count_reference_population": 909,
"gnomad_exomes_af": 0.000309958,
"gnomad_genomes_af": 0.00299547,
"gnomad_exomes_ac": 453,
"gnomad_genomes_ac": 456,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003562629222869873,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.1776,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.297,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000305883.6",
"gene_symbol": "KLF11",
"hgnc_id": 11811,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asp137Gly"
}
],
"clinvar_disease": "Monogenic diabetes,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"phenotype_combined": "not specified|Monogenic diabetes|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}