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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: 1-240092808-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=240092808&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 240092808,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000319653.14",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Ala233Ala",
"transcript": "NM_020066.5",
"protein_id": "NP_064450.3",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1722,
"cds_start": 699,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": "ENST00000319653.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Ala233Ala",
"transcript": "ENST00000319653.14",
"protein_id": "ENSP00000318884.9",
"transcript_support_level": 5,
"aa_start": 233,
"aa_end": null,
"aa_length": 1722,
"cds_start": 699,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": "NM_020066.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Ala233Ala",
"transcript": "NM_001305424.2",
"protein_id": "NP_001292353.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1726,
"cds_start": 699,
"cds_end": null,
"cds_length": 5181,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Ala233Ala",
"transcript": "NM_001348094.2",
"protein_id": "NP_001335023.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 998,
"cds_start": 699,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Ala233Ala",
"transcript": "XM_017001837.2",
"protein_id": "XP_016857326.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1417,
"cds_start": 699,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Ala233Ala",
"transcript": "XM_017001838.2",
"protein_id": "XP_016857327.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1384,
"cds_start": 699,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 4467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Ala233Ala",
"transcript": "XM_011544237.4",
"protein_id": "XP_011542539.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1360,
"cds_start": 699,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 5838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Ala233Ala",
"transcript": "XM_047425620.1",
"protein_id": "XP_047281576.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1356,
"cds_start": 699,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 5826,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.-87+24735A>C",
"hgvs_p": null,
"transcript": "ENST00000447095.5",
"protein_id": "ENSP00000409308.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": -4,
"cds_end": null,
"cds_length": 686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"dbsnp": "rs1198518631",
"frequency_reference_population": 0.00000252725,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 6.98991e-7,
"gnomad_genomes_af": 0.0000197221,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.122,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000319653.14",
"gene_symbol": "FMN2",
"hgnc_id": 14074,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Ala233Ala"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}