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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: 9-113423398-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113423398&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 113423398,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000374165.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu",
"transcript": "NM_001278629.2",
"protein_id": "NP_001265558.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 461,
"cds_start": 556,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": "ENST00000374165.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu",
"transcript": "ENST00000374165.6",
"protein_id": "ENSP00000363280.1",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 461,
"cds_start": 556,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": "NM_001278629.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu",
"transcript": "ENST00000288462.4",
"protein_id": "ENSP00000288462.4",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 461,
"cds_start": 556,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"hgvs_c": "c.610G>C",
"hgvs_p": "p.Val204Leu",
"transcript": "NM_001278630.2",
"protein_id": "NP_001265559.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 479,
"cds_start": 610,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu",
"transcript": "NM_152786.3",
"protein_id": "NP_689999.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 461,
"cds_start": 556,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu",
"transcript": "XM_024447490.2",
"protein_id": "XP_024303258.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 461,
"cds_start": 556,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu",
"transcript": "XM_024447491.2",
"protein_id": "XP_024303259.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 461,
"cds_start": 556,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu",
"transcript": "XM_011518477.2",
"protein_id": "XP_011516779.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 446,
"cds_start": 556,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu",
"transcript": "XM_047423157.1",
"protein_id": "XP_047279113.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 446,
"cds_start": 556,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 2067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Val52Leu",
"transcript": "XM_005251885.4",
"protein_id": "XP_005251942.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 327,
"cds_start": 154,
"cds_end": null,
"cds_length": 984,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 1476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Val52Leu",
"transcript": "XM_011518479.3",
"protein_id": "XP_011516781.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 327,
"cds_start": 154,
"cds_end": null,
"cds_length": 984,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1753,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"hgvs_c": "n.860G>C",
"hgvs_p": null,
"transcript": "XR_007061270.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C9orf43",
"gene_hgnc_id": 23570,
"dbsnp": "rs369164769",
"frequency_reference_population": 6.840769e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84077e-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": 0.5348331928253174,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.189,
"revel_prediction": "Benign",
"alphamissense_score": 0.3324,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.578,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000374165.6",
"gene_symbol": "C9orf43",
"hgnc_id": 23570,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}