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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: 8-37766296-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=37766296&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 37766296,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000328195.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Pro87His",
"transcript": "NM_007198.4",
"protein_id": "NP_009129.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 275,
"cds_start": 260,
"cds_end": null,
"cds_length": 828,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": "ENST00000328195.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Pro87His",
"transcript": "ENST00000328195.8",
"protein_id": "ENSP00000333551.3",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 275,
"cds_start": 260,
"cds_end": null,
"cds_length": 828,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": "NM_007198.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Pro87His",
"transcript": "NM_001349346.2",
"protein_id": "NP_001336275.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 285,
"cds_start": 260,
"cds_end": null,
"cds_length": 858,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Pro85His",
"transcript": "NM_001349347.2",
"protein_id": "NP_001336276.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 273,
"cds_start": 254,
"cds_end": null,
"cds_length": 822,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "c.104C>A",
"hgvs_p": "p.Pro35His",
"transcript": "NM_001349348.2",
"protein_id": "NP_001336277.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 223,
"cds_start": 104,
"cds_end": null,
"cds_length": 672,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Pro122His",
"transcript": "NM_001349349.1",
"protein_id": "NP_001336278.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 158,
"cds_start": 365,
"cds_end": null,
"cds_length": 477,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Pro87His",
"transcript": "ENST00000523358.5",
"protein_id": "ENSP00000427778.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 151,
"cds_start": 260,
"cds_end": null,
"cds_length": 456,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "c.104C>A",
"hgvs_p": "p.Pro35His",
"transcript": "ENST00000523187.5",
"protein_id": "ENSP00000427886.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 136,
"cds_start": 104,
"cds_end": null,
"cds_length": 411,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Pro6His",
"transcript": "ENST00000523521.1",
"protein_id": "ENSP00000429425.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 127,
"cds_start": 17,
"cds_end": null,
"cds_length": 384,
"cdna_start": 17,
"cdna_end": null,
"cdna_length": 384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "n.*112C>A",
"hgvs_p": null,
"transcript": "ENST00000518036.5",
"protein_id": "ENSP00000428005.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "n.325C>A",
"hgvs_p": null,
"transcript": "ENST00000520073.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "n.265C>A",
"hgvs_p": null,
"transcript": "ENST00000523994.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"hgvs_c": "n.*112C>A",
"hgvs_p": null,
"transcript": "ENST00000518036.5",
"protein_id": "ENSP00000428005.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLPBP",
"gene_hgnc_id": 9457,
"dbsnp": "rs755946598",
"frequency_reference_population": 0.000006574622,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657462,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7128793001174927,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.401,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2687,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.522,
"phylop100way_prediction": "Pathogenic",
"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,PM5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000328195.8",
"gene_symbol": "PLPBP",
"hgnc_id": 9457,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Pro87His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}