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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: 19-863116-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=863116&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 863116,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000327726.11",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFD",
"gene_hgnc_id": 2771,
"hgvs_c": "c.640T>G",
"hgvs_p": "p.Cys214Gly",
"transcript": "NM_001928.4",
"protein_id": "NP_001919.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 253,
"cds_start": 640,
"cds_end": null,
"cds_length": 762,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1191,
"mane_select": "ENST00000327726.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFD",
"gene_hgnc_id": 2771,
"hgvs_c": "c.640T>G",
"hgvs_p": "p.Cys214Gly",
"transcript": "ENST00000327726.11",
"protein_id": "ENSP00000332139.4",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 253,
"cds_start": 640,
"cds_end": null,
"cds_length": 762,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1191,
"mane_select": "NM_001928.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFD",
"gene_hgnc_id": 2771,
"hgvs_c": "c.661T>G",
"hgvs_p": "p.Cys221Gly",
"transcript": "ENST00000592860.3",
"protein_id": "ENSP00000468253.1",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 260,
"cds_start": 661,
"cds_end": null,
"cds_length": 783,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFD",
"gene_hgnc_id": 2771,
"hgvs_c": "c.661T>G",
"hgvs_p": "p.Cys221Gly",
"transcript": "NM_001317335.2",
"protein_id": "NP_001304264.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 260,
"cds_start": 661,
"cds_end": null,
"cds_length": 783,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFD",
"gene_hgnc_id": 2771,
"hgvs_c": "c.589T>G",
"hgvs_p": "p.Cys197Gly",
"transcript": "ENST00000695945.1",
"protein_id": "ENSP00000512278.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 236,
"cds_start": 589,
"cds_end": null,
"cds_length": 711,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFD",
"gene_hgnc_id": 2771,
"hgvs_c": "c.523T>G",
"hgvs_p": "p.Cys175Gly",
"transcript": "ENST00000695942.1",
"protein_id": "ENSP00000512275.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 214,
"cds_start": 523,
"cds_end": null,
"cds_length": 645,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFD",
"gene_hgnc_id": 2771,
"hgvs_c": "c.523T>G",
"hgvs_p": "p.Cys175Gly",
"transcript": "ENST00000695943.1",
"protein_id": "ENSP00000512276.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 214,
"cds_start": 523,
"cds_end": null,
"cds_length": 645,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFD",
"gene_hgnc_id": 2771,
"hgvs_c": "c.523T>G",
"hgvs_p": "p.Cys175Gly",
"transcript": "ENST00000695944.1",
"protein_id": "ENSP00000512277.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 214,
"cds_start": 523,
"cds_end": null,
"cds_length": 645,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 1089,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFD",
"gene_hgnc_id": 2771,
"hgvs_c": "c.258+1160T>G",
"hgvs_p": null,
"transcript": "ENST00000695946.1",
"protein_id": "ENSP00000512279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": -4,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFD",
"gene_hgnc_id": 2771,
"dbsnp": "rs267606721",
"frequency_reference_population": 7.25741e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.25741e-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": 0.9337747097015381,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.552,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9167,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.686,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "ENST00000327726.11",
"gene_symbol": "CFD",
"hgnc_id": 2771,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.640T>G",
"hgvs_p": "p.Cys214Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}