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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: 10-16752564-GCG-ACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=16752564&ref=GCG&alt=ACA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RSU1",
"hgnc_id": 10464,
"hgvs_c": "c.571_573delCGCinsTGT",
"hgvs_p": "p.Arg191Cys",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_012425.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 277,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3730,
"cdna_start": 686,
"cds_end": null,
"cds_length": 834,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012425.4",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "c.571_573delCGCinsTGT",
"hgvs_p": "p.Arg191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345264.10",
"protein_coding": true,
"protein_id": "NP_036557.1",
"strand": false,
"transcript": "NM_012425.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 277,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3730,
"cdna_start": 686,
"cds_end": null,
"cds_length": 834,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000345264.10",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "c.571_573delCGCinsTGT",
"hgvs_p": "p.Arg191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012425.4",
"protein_coding": true,
"protein_id": "ENSP00000339521.5",
"strand": false,
"transcript": "ENST00000345264.10",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 277,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3919,
"cdna_start": 875,
"cds_end": null,
"cds_length": 834,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377921.7",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "c.571_573delCGCinsTGT",
"hgvs_p": "p.Arg191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367154.3",
"strand": false,
"transcript": "ENST00000377921.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 224,
"aa_ref": "R",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3639,
"cdna_start": 604,
"cds_end": null,
"cds_length": 675,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000602389.1",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "c.412_414delCGCinsTGT",
"hgvs_p": "p.Arg138Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473588.1",
"strand": false,
"transcript": "ENST00000602389.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 955,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000377911.1",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "n.611_613delCGCinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000377911.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 277,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 822,
"cds_end": null,
"cds_length": 834,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905315.1",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "c.571_573delCGCinsTGT",
"hgvs_p": "p.Arg191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575374.1",
"strand": false,
"transcript": "ENST00000905315.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 274,
"aa_ref": "R",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1020,
"cdna_start": 682,
"cds_end": null,
"cds_length": 825,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949334.1",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "c.562_564delCGCinsTGT",
"hgvs_p": "p.Arg188Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619393.1",
"strand": false,
"transcript": "ENST00000949334.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 260,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 674,
"cds_end": null,
"cds_length": 783,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905311.1",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "c.520_522delCGCinsTGT",
"hgvs_p": "p.Arg174Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575371.1",
"strand": false,
"transcript": "ENST00000905311.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 260,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 847,
"cds_end": null,
"cds_length": 783,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949333.1",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "c.520_522delCGCinsTGT",
"hgvs_p": "p.Arg174Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619392.1",
"strand": false,
"transcript": "ENST00000949333.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 224,
"aa_ref": "R",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3618,
"cdna_start": 574,
"cds_end": null,
"cds_length": 675,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152724.3",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "c.412_414delCGCinsTGT",
"hgvs_p": "p.Arg138Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689937.2",
"strand": false,
"transcript": "NM_152724.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 277,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3487,
"cdna_start": 576,
"cds_end": null,
"cds_length": 834,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425617.1",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "c.571_573delCGCinsTGT",
"hgvs_p": "p.Arg191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281573.1",
"strand": false,
"transcript": "XM_047425617.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 131,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1152,
"cdna_start": null,
"cds_end": null,
"cds_length": 396,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905313.1",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "c.160+29468_160+29470delCGCinsTGT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575372.1",
"strand": false,
"transcript": "ENST00000905313.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1141,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000464074.6",
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"hgvs_c": "n.510_512delCGCinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000464074.6",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 10464,
"gene_symbol": "RSU1",
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.539,
"pos": 16752564,
"ref": "GCG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_012425.4"
}
]
}