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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: 17-76328830-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76328830&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 76328830,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002766.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Gly223Asp",
"transcript": "NM_002766.3",
"protein_id": "NP_002757.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 385,
"cds_start": 668,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000446526.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002766.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Gly223Asp",
"transcript": "ENST00000446526.8",
"protein_id": "ENSP00000414624.2",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 385,
"cds_start": 668,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002766.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446526.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Gly223Asp",
"transcript": "ENST00000908407.1",
"protein_id": "ENSP00000578466.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 425,
"cds_start": 668,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908407.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Gly223Asp",
"transcript": "ENST00000922958.1",
"protein_id": "ENSP00000593017.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 401,
"cds_start": 668,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922958.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Gly223Asp",
"transcript": "ENST00000941093.1",
"protein_id": "ENSP00000611152.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 399,
"cds_start": 668,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941093.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Gly223Asp",
"transcript": "ENST00000908408.1",
"protein_id": "ENSP00000578467.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 384,
"cds_start": 668,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908408.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Gly120Asp",
"transcript": "NM_001330503.2",
"protein_id": "NP_001317432.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 282,
"cds_start": 359,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330503.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Gly120Asp",
"transcript": "NM_001366236.2",
"protein_id": "NP_001353165.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 282,
"cds_start": 359,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366236.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Gly120Asp",
"transcript": "ENST00000324684.8",
"protein_id": "ENSP00000314973.4",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 282,
"cds_start": 359,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324684.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Gly120Asp",
"transcript": "ENST00000435555.6",
"protein_id": "ENSP00000392838.1",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 229,
"cds_start": 359,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435555.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Gly120Asp",
"transcript": "ENST00000436498.6",
"protein_id": "ENSP00000387494.2",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 156,
"cds_start": 359,
"cds_end": null,
"cds_length": 472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436498.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "n.157G>A",
"hgvs_p": null,
"transcript": "ENST00000472686.1",
"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": "ENST00000472686.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "n.35G>A",
"hgvs_p": null,
"transcript": "ENST00000488339.1",
"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": "ENST00000488339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "n.292G>A",
"hgvs_p": null,
"transcript": "ENST00000586137.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000586137.1"
}
],
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"dbsnp": null,
"frequency_reference_population": 0.0000020522025,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020522,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7727806568145752,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.473,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9631,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.019,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002766.3",
"gene_symbol": "PRPSAP1",
"hgnc_id": 9466,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Gly223Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}