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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: 9-107306532-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=107306532&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 107306532,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002874.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Pro128Ser",
"transcript": "NM_002874.5",
"protein_id": "NP_002865.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 409,
"cds_start": 382,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358015.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002874.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Pro128Ser",
"transcript": "ENST00000358015.8",
"protein_id": "ENSP00000350708.3",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 409,
"cds_start": 382,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002874.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358015.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Pro56Ser",
"transcript": "ENST00000416373.6",
"protein_id": "ENSP00000405623.2",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 337,
"cds_start": 166,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416373.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Pro107Ser",
"transcript": "NM_001244713.1",
"protein_id": "NP_001231642.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 388,
"cds_start": 319,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244713.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Pro128Ser",
"transcript": "ENST00000866019.1",
"protein_id": "ENSP00000536078.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 381,
"cds_start": 382,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866019.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Pro74Ser",
"transcript": "ENST00000866018.1",
"protein_id": "ENSP00000536077.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 355,
"cds_start": 220,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866018.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Pro56Ser",
"transcript": "NM_001244724.2",
"protein_id": "NP_001231653.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 337,
"cds_start": 166,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244724.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Pro128Ser",
"transcript": "ENST00000419616.5",
"protein_id": "ENSP00000416868.1",
"transcript_support_level": 3,
"aa_start": 128,
"aa_end": null,
"aa_length": 145,
"cds_start": 382,
"cds_end": null,
"cds_length": 440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419616.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.-12C>T",
"hgvs_p": null,
"transcript": "ENST00000457811.1",
"protein_id": "ENSP00000396975.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457811.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.*79C>T",
"hgvs_p": null,
"transcript": "ENST00000442587.1",
"protein_id": "ENSP00000415821.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442587.1"
}
],
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"dbsnp": "rs777629375",
"frequency_reference_population": 0.0000041042704,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410427,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30405181646347046,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.0678,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.843,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002874.5",
"gene_symbol": "RAD23B",
"hgnc_id": 9813,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Pro128Ser"
}
],
"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
}