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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: 20-37179387-G-GCTTATAGACAGGGCCCCGCGGTCGGCACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=37179387&ref=G&alt=GCTTATAGACAGGGCCCCGCGGTCGGCACT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 37179387,
"ref": "G",
"alt": "GCTTATAGACAGGGCCCCGCGGTCGGCACT",
"effect": "splice_acceptor_variant,splice_donor_variant,intron_variant",
"transcript": "ENST00000343811.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+21_13+22insATAGACAGGGCCCCGCGGTCGGCACTCTT",
"hgvs_p": null,
"transcript": "NM_002951.5",
"protein_id": "NP_002942.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": "ENST00000237530.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+18_13+19insCTTATAGACAGGGCCCCGCGGTCGGCACT",
"hgvs_p": null,
"transcript": "ENST00000237530.11",
"protein_id": "ENSP00000237530.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": "NM_002951.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MROH8",
"gene_hgnc_id": 16125,
"hgvs_c": "c.92+1_93insAGTGCCGACCGCGGGGCCCTGTCTATAAG",
"hgvs_p": null,
"transcript": "ENST00000343811.10",
"protein_id": "ENSP00000513568.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": -4,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MROH8",
"gene_hgnc_id": 16125,
"hgvs_c": "c.92+1_93insAGTGCCGACCGCGGGGCCCTGTCTATAAG",
"hgvs_p": null,
"transcript": "ENST00000400440.7",
"protein_id": "ENSP00000513569.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": -4,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MROH8",
"gene_hgnc_id": 16125,
"hgvs_c": "c.92+1_93insAGTGCCGACCGCGGGGCCCTGTCTATAAG",
"hgvs_p": null,
"transcript": "NM_152503.8",
"protein_id": "NP_689716.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": -4,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MROH8",
"gene_hgnc_id": 16125,
"hgvs_c": "c.92+1_93insAGTGCCGACCGCGGGGCCCTGTCTATAAG",
"hgvs_p": null,
"transcript": "ENST00000422138.2",
"protein_id": "ENSP00000400468.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
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"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+21_13+22insATAGACAGGGCCCCGCGGTCGGCACTCTT",
"hgvs_p": null,
"transcript": "NM_001324301.2",
"protein_id": "NP_001311230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": -4,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+18_13+19insCTTATAGACAGGGCCCCGCGGTCGGCACT",
"hgvs_p": null,
"transcript": "ENST00000705448.1",
"protein_id": "ENSP00000516126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
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"cds_length": 1965,
"cdna_start": null,
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"cdna_length": 3166,
"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "RPN2",
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"hgvs_c": "c.13+21_13+22insATAGACAGGGCCCCGCGGTCGGCACTCTT",
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"transcript": "NM_001324304.2",
"protein_id": "NP_001311233.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "RPN2",
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},
{
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],
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],
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},
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],
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},
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],
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},
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],
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],
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},
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],
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},
{
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],
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"transcript": "XM_006723851.4",
"protein_id": "XP_006723914.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"transcript": "XM_006723852.4",
"protein_id": "XP_006723915.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
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"gene_symbol": "MROH8",
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"transcript": "ENST00000434295.5",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MROH8",
"gene_hgnc_id": 16125,
"dbsnp": "rs11467214",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.659,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000343811.10",
"gene_symbol": "MROH8",
"hgnc_id": 16125,
"effects": [
"splice_acceptor_variant",
"splice_donor_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.92+1_93insAGTGCCGACCGCGGGGCCCTGTCTATAAG",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000237530.11",
"gene_symbol": "RPN2",
"hgnc_id": 10382,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.13+18_13+19insCTTATAGACAGGGCCCCGCGGTCGGCACT",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}