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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: 14-99660375-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99660375&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 99660375,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000330710.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHIPL1",
"gene_hgnc_id": 19710,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Ser",
"transcript": "NM_001127258.3",
"protein_id": "NP_001120730.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 782,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 7371,
"mane_select": "ENST00000330710.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHIPL1",
"gene_hgnc_id": 19710,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Ser",
"transcript": "ENST00000330710.10",
"protein_id": "ENSP00000330601.5",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 782,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 7371,
"mane_select": "NM_001127258.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHIPL1",
"gene_hgnc_id": 19710,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Ser",
"transcript": "ENST00000357223.2",
"protein_id": "ENSP00000349757.2",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 608,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHIPL1",
"gene_hgnc_id": 19710,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Ser",
"transcript": "NM_032425.5",
"protein_id": "NP_115801.3",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 608,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHIPL1",
"gene_hgnc_id": 19710,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Gly426Ser",
"transcript": "NM_001329411.2",
"protein_id": "NP_001316340.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 543,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 3406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHIPL1",
"gene_hgnc_id": 19710,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Gly426Ser",
"transcript": "XM_011537236.3",
"protein_id": "XP_011535538.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 717,
"cds_start": 1276,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 7461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHIPL1",
"gene_hgnc_id": 19710,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Ser",
"transcript": "XM_006720277.4",
"protein_id": "XP_006720340.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 707,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 7343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHIPL1",
"gene_hgnc_id": 19710,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Gly374Ser",
"transcript": "XM_017021707.3",
"protein_id": "XP_016877196.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 665,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 7557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HHIPL1",
"gene_hgnc_id": 19710,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Ser",
"transcript": "XM_011537237.3",
"protein_id": "XP_011535539.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 593,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HHIPL1",
"gene_hgnc_id": 19710,
"dbsnp": "rs193920989",
"frequency_reference_population": 6.8420513e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84205e-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": 0.9826353788375854,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.643,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.296,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000330710.10",
"gene_symbol": "HHIPL1",
"hgnc_id": 19710,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}