← 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: 9-134887405-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=134887405&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 134887405,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004108.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN2",
"gene_hgnc_id": 3624,
"hgvs_c": "c.932G>C",
"hgvs_p": "p.Arg311Pro",
"transcript": "NM_004108.3",
"protein_id": "NP_004099.2",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 313,
"cds_start": 932,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000291744.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004108.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN2",
"gene_hgnc_id": 3624,
"hgvs_c": "c.932G>C",
"hgvs_p": "p.Arg311Pro",
"transcript": "ENST00000291744.11",
"protein_id": "ENSP00000291744.6",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 313,
"cds_start": 932,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004108.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291744.11"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN2",
"gene_hgnc_id": 3624,
"hgvs_c": "c.1124G>C",
"hgvs_p": "p.Arg375Pro",
"transcript": "ENST00000855732.1",
"protein_id": "ENSP00000525791.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 377,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855732.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN2",
"gene_hgnc_id": 3624,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Arg332Pro",
"transcript": "ENST00000855735.1",
"protein_id": "ENSP00000525794.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 334,
"cds_start": 995,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855735.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN2",
"gene_hgnc_id": 3624,
"hgvs_c": "c.899G>C",
"hgvs_p": "p.Arg300Pro",
"transcript": "ENST00000855733.1",
"protein_id": "ENSP00000525792.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 302,
"cds_start": 899,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855733.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN2",
"gene_hgnc_id": 3624,
"hgvs_c": "c.818G>C",
"hgvs_p": "p.Arg273Pro",
"transcript": "NM_015837.3",
"protein_id": "NP_056652.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 275,
"cds_start": 818,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015837.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN2",
"gene_hgnc_id": 3624,
"hgvs_c": "c.818G>C",
"hgvs_p": "p.Arg273Pro",
"transcript": "ENST00000350339.3",
"protein_id": "ENSP00000291741.5",
"transcript_support_level": 5,
"aa_start": 273,
"aa_end": null,
"aa_length": 275,
"cds_start": 818,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350339.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN2",
"gene_hgnc_id": 3624,
"hgvs_c": "c.785G>C",
"hgvs_p": "p.Arg262Pro",
"transcript": "ENST00000967320.1",
"protein_id": "ENSP00000637379.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 264,
"cds_start": 785,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967320.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN2",
"gene_hgnc_id": 3624,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "ENST00000855734.1",
"protein_id": "ENSP00000525793.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 257,
"cds_start": 764,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855734.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN2",
"gene_hgnc_id": 3624,
"hgvs_c": "c.899G>C",
"hgvs_p": "p.Arg300Pro",
"transcript": "XM_011518392.4",
"protein_id": "XP_011516694.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 302,
"cds_start": 899,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518392.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN2",
"gene_hgnc_id": 3624,
"hgvs_c": "c.785G>C",
"hgvs_p": "p.Arg262Pro",
"transcript": "XM_006717015.5",
"protein_id": "XP_006717078.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 264,
"cds_start": 785,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717015.5"
}
],
"gene_symbol": "FCN2",
"gene_hgnc_id": 3624,
"dbsnp": "rs76267164",
"frequency_reference_population": 6.8409094e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84091e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9362601041793823,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.662,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9341,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.642,
"phylop100way_prediction": "Uncertain_significance",
"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_004108.3",
"gene_symbol": "FCN2",
"hgnc_id": 3624,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.932G>C",
"hgvs_p": "p.Arg311Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}