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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: 17-76353697-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76353697&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 76353697,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002766.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.7A>G",
"hgvs_p": "p.Lys3Glu",
"transcript": "NM_002766.3",
"protein_id": "NP_002757.2",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 385,
"cds_start": 7,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 3435,
"mane_select": "ENST00000446526.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002766.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.7A>G",
"hgvs_p": "p.Lys3Glu",
"transcript": "ENST00000446526.8",
"protein_id": "ENSP00000414624.2",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 385,
"cds_start": 7,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 3435,
"mane_select": "NM_002766.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446526.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.7A>G",
"hgvs_p": "p.Lys3Glu",
"transcript": "ENST00000908407.1",
"protein_id": "ENSP00000578466.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 425,
"cds_start": 7,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908407.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.7A>G",
"hgvs_p": "p.Lys3Glu",
"transcript": "ENST00000922958.1",
"protein_id": "ENSP00000593017.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 401,
"cds_start": 7,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922958.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.7A>G",
"hgvs_p": "p.Lys3Glu",
"transcript": "ENST00000941093.1",
"protein_id": "ENSP00000611152.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 399,
"cds_start": 7,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941093.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.7A>G",
"hgvs_p": "p.Lys3Glu",
"transcript": "ENST00000908408.1",
"protein_id": "ENSP00000578467.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 384,
"cds_start": 7,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908408.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.-236A>G",
"hgvs_p": null,
"transcript": "NM_001330503.2",
"protein_id": "NP_001317432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": null,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330503.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.-140+420A>G",
"hgvs_p": null,
"transcript": "NM_001366236.2",
"protein_id": "NP_001353165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": null,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366236.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.-140+420A>G",
"hgvs_p": null,
"transcript": "ENST00000324684.8",
"protein_id": "ENSP00000314973.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": null,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324684.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.-140+1146A>G",
"hgvs_p": null,
"transcript": "ENST00000435555.6",
"protein_id": "ENSP00000392838.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": null,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435555.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.45-5116A>G",
"hgvs_p": null,
"transcript": "ENST00000442767.1",
"protein_id": "ENSP00000402126.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.-139-5116A>G",
"hgvs_p": null,
"transcript": "ENST00000423915.1",
"protein_id": "ENSP00000409190.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": null,
"cds_end": null,
"cds_length": 269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423915.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "c.-776A>G",
"hgvs_p": null,
"transcript": "ENST00000436498.6",
"protein_id": "ENSP00000387494.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436498.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"hgvs_c": "n.-69A>G",
"hgvs_p": null,
"transcript": "ENST00000494662.5",
"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": 572,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494662.5"
}
],
"gene_symbol": "PRPSAP1",
"gene_hgnc_id": 9466,
"dbsnp": "rs551696186",
"frequency_reference_population": 0.000033036365,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000277938,
"gnomad_genomes_af": 0.0000789557,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21775534749031067,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.264,
"revel_prediction": "Benign",
"alphamissense_score": 0.1683,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.226,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_002766.3",
"gene_symbol": "PRPSAP1",
"hgnc_id": 9466,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7A>G",
"hgvs_p": "p.Lys3Glu"
}
],
"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
}