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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: 4-154606881-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=154606881&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 154606881,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021870.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"hgvs_c": "c.953G>T",
"hgvs_p": "p.Gly318Val",
"transcript": "NM_021870.3",
"protein_id": "NP_068656.2",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 453,
"cds_start": 953,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336098.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021870.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"hgvs_c": "c.953G>T",
"hgvs_p": "p.Gly318Val",
"transcript": "ENST00000336098.8",
"protein_id": "ENSP00000336829.3",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 453,
"cds_start": 953,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021870.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336098.8"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"hgvs_c": "c.953G>T",
"hgvs_p": "p.Gly318Val",
"transcript": "ENST00000404648.7",
"protein_id": "ENSP00000384860.3",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 437,
"cds_start": 953,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404648.7"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"hgvs_c": "c.977G>T",
"hgvs_p": "p.Gly326Val",
"transcript": "ENST00000407946.5",
"protein_id": "ENSP00000384552.1",
"transcript_support_level": 5,
"aa_start": 326,
"aa_end": null,
"aa_length": 461,
"cds_start": 977,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407946.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"hgvs_c": "c.947G>T",
"hgvs_p": "p.Gly316Val",
"transcript": "ENST00000906291.1",
"protein_id": "ENSP00000576350.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 451,
"cds_start": 947,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906291.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"hgvs_c": "c.944G>T",
"hgvs_p": "p.Gly315Val",
"transcript": "ENST00000906290.1",
"protein_id": "ENSP00000576349.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 450,
"cds_start": 944,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906290.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"hgvs_c": "c.944G>T",
"hgvs_p": "p.Gly315Val",
"transcript": "ENST00000906292.1",
"protein_id": "ENSP00000576351.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 450,
"cds_start": 944,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906292.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"hgvs_c": "c.977G>T",
"hgvs_p": "p.Gly326Val",
"transcript": "ENST00000405164.5",
"protein_id": "ENSP00000384101.1",
"transcript_support_level": 5,
"aa_start": 326,
"aa_end": null,
"aa_length": 445,
"cds_start": 977,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405164.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"hgvs_c": "c.953G>T",
"hgvs_p": "p.Gly318Val",
"transcript": "NM_000509.6",
"protein_id": "NP_000500.2",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 437,
"cds_start": 953,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000509.6"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Gly137Val",
"transcript": "ENST00000906289.1",
"protein_id": "ENSP00000576348.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 272,
"cds_start": 410,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906289.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"hgvs_c": "n.501G>T",
"hgvs_p": null,
"transcript": "ENST00000465913.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000465913.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"hgvs_c": "n.1495G>T",
"hgvs_p": null,
"transcript": "ENST00000492082.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000492082.5"
}
],
"gene_symbol": "FGG",
"gene_hgnc_id": 3694,
"dbsnp": "rs121913089",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9380736947059631,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.927,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.984,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.673,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021870.3",
"gene_symbol": "FGG",
"hgnc_id": 3694,
"effects": [
"missense_variant"
],
"inheritance_mode": "SD,AD,AR",
"hgvs_c": "c.953G>T",
"hgvs_p": "p.Gly318Val"
}
],
"clinvar_disease": "FGG-related disorder,FIBRINOGEN BALTIMORE 1",
"clinvar_classification": " other,Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "FIBRINOGEN BALTIMORE 1|FGG-related disorder",
"pathogenicity_classification_combined": "Uncertain significance; other",
"custom_annotations": null
}
],
"message": null
}