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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: 17-30971313-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=30971313&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 30971313,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032322.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF135",
"gene_hgnc_id": 21158,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asp80Glu",
"transcript": "NM_032322.4",
"protein_id": "NP_115698.3",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 432,
"cds_start": 240,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": "ENST00000328381.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF135",
"gene_hgnc_id": 21158,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asp80Glu",
"transcript": "ENST00000328381.10",
"protein_id": "ENSP00000328340.5",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 432,
"cds_start": 240,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": "NM_032322.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF135",
"gene_hgnc_id": 21158,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asp80Glu",
"transcript": "ENST00000535306.6",
"protein_id": "ENSP00000440470.2",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 286,
"cds_start": 240,
"cds_end": null,
"cds_length": 861,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF135",
"gene_hgnc_id": 21158,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asp80Glu",
"transcript": "ENST00000324689.8",
"protein_id": "ENSP00000323693.4",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 210,
"cds_start": 240,
"cds_end": null,
"cds_length": 633,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RNF135",
"gene_hgnc_id": 21158,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asp80Glu",
"transcript": "ENST00000443677.6",
"protein_id": "ENSP00000411965.2",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 162,
"cds_start": 240,
"cds_end": null,
"cds_length": 489,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 1261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF135",
"gene_hgnc_id": 21158,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asp80Glu",
"transcript": "NM_001184992.2",
"protein_id": "NP_001171921.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 286,
"cds_start": 240,
"cds_end": null,
"cds_length": 861,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF135",
"gene_hgnc_id": 21158,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asp80Glu",
"transcript": "NM_197939.2",
"protein_id": "NP_922921.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 210,
"cds_start": 240,
"cds_end": null,
"cds_length": 633,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RNF135",
"gene_hgnc_id": 21158,
"hgvs_c": "c.171C>A",
"hgvs_p": "p.Asp57Glu",
"transcript": "ENST00000580444.2",
"protein_id": "ENSP00000464549.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 156,
"cds_start": 171,
"cds_end": null,
"cds_length": 473,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 475,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNF135",
"gene_hgnc_id": 21158,
"hgvs_c": "c.51+12309C>A",
"hgvs_p": null,
"transcript": "XM_047436929.1",
"protein_id": "XP_047292885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1731,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNF135",
"gene_hgnc_id": 21158,
"hgvs_c": "c.-172+2464C>A",
"hgvs_p": null,
"transcript": "XM_024451001.2",
"protein_id": "XP_024306769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF135",
"gene_hgnc_id": 21158,
"hgvs_c": "c.-605C>A",
"hgvs_p": null,
"transcript": "XM_024451000.2",
"protein_id": "XP_024306768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNF135",
"gene_hgnc_id": 21158,
"dbsnp": "rs749893166",
"frequency_reference_population": 0.000008684098,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.0000086841,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0600031316280365,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.2143,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.345,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032322.4",
"gene_symbol": "RNF135",
"hgnc_id": 21158,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asp80Glu"
}
],
"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
}