← Back to variant description
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: 19-51768758-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51768758&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FPR2",
"hgnc_id": 3827,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Gly34Arg",
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001462.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FPR1",
"hgnc_id": 3826,
"hgvs_c": "c.-12+8887C>T",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000594900.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9733,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.86952805519104,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 351,
"aa_ref": "G",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 165,
"cds_end": null,
"cds_length": 1056,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001005738.2",
"gene_hgnc_id": 3827,
"gene_symbol": "FPR2",
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Gly34Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340023.7",
"protein_coding": true,
"protein_id": "NP_001005738.1",
"strand": true,
"transcript": "NM_001005738.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 351,
"aa_ref": "G",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 165,
"cds_end": null,
"cds_length": 1056,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000340023.7",
"gene_hgnc_id": 3827,
"gene_symbol": "FPR2",
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Gly34Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001005738.2",
"protein_coding": true,
"protein_id": "ENSP00000340191.4",
"strand": true,
"transcript": "ENST00000340023.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 351,
"aa_ref": "G",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2621,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1056,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000598776.1",
"gene_hgnc_id": 3827,
"gene_symbol": "FPR2",
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Gly34Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468897.1",
"strand": true,
"transcript": "ENST00000598776.1",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 351,
"aa_ref": "G",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": 243,
"cds_end": null,
"cds_length": 1056,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001462.3",
"gene_hgnc_id": 3827,
"gene_symbol": "FPR2",
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Gly34Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001453.1",
"strand": true,
"transcript": "NM_001462.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 351,
"aa_ref": "G",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": 289,
"cds_end": null,
"cds_length": 1056,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000598953.1",
"gene_hgnc_id": 3827,
"gene_symbol": "FPR2",
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Gly34Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468876.1",
"strand": true,
"transcript": "ENST00000598953.1",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 135,
"aa_ref": "G",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 576,
"cdna_start": 266,
"cds_end": null,
"cds_length": 410,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000599326.1",
"gene_hgnc_id": 3827,
"gene_symbol": "FPR2",
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Gly34Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469085.1",
"strand": true,
"transcript": "ENST00000599326.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 123,
"aa_ref": "G",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 543,
"cdna_start": 269,
"cds_end": null,
"cds_length": 374,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000600722.1",
"gene_hgnc_id": 3827,
"gene_symbol": "FPR2",
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Gly34Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472259.1",
"strand": true,
"transcript": "ENST00000600722.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 87,
"aa_ref": "G",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 985,
"cdna_start": 820,
"cds_end": null,
"cds_length": 265,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000600258.1",
"gene_hgnc_id": 3827,
"gene_symbol": "FPR2",
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Gly34Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470373.1",
"strand": true,
"transcript": "ENST00000600258.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 351,
"aa_ref": "G",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2094,
"cdna_start": 321,
"cds_end": null,
"cds_length": 1056,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006723120.4",
"gene_hgnc_id": 3827,
"gene_symbol": "FPR2",
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Gly34Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723183.1",
"strand": true,
"transcript": "XM_006723120.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000594900.2",
"gene_hgnc_id": 3826,
"gene_symbol": "FPR1",
"hgvs_c": "c.-12+8887C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470750.2",
"strand": false,
"transcript": "ENST00000594900.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1409,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930484.1",
"gene_hgnc_id": 3826,
"gene_symbol": "FPR1",
"hgvs_c": "c.-12+8887C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600543.1",
"strand": false,
"transcript": "ENST00000930484.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 3827,
"gene_symbol": "FPR2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.958,
"pos": 51768758,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.262,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001462.3"
}
]
}