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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: 10-43183348-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=43183348&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 43183348,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000374466.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT2",
"gene_hgnc_id": 24292,
"hgvs_c": "c.1435C>T",
"hgvs_p": "p.Pro479Ser",
"transcript": "NM_018590.5",
"protein_id": "NP_061060.3",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 542,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1811,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": "ENST00000374466.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT2",
"gene_hgnc_id": 24292,
"hgvs_c": "c.1435C>T",
"hgvs_p": "p.Pro479Ser",
"transcript": "ENST00000374466.4",
"protein_id": "ENSP00000363590.3",
"transcript_support_level": 1,
"aa_start": 479,
"aa_end": null,
"aa_length": 542,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1811,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": "NM_018590.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT2",
"gene_hgnc_id": 24292,
"hgvs_c": "c.1435C>T",
"hgvs_p": "p.Pro479Ser",
"transcript": "XM_047425438.1",
"protein_id": "XP_047281394.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 542,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT2",
"gene_hgnc_id": 24292,
"hgvs_c": "c.1435C>T",
"hgvs_p": "p.Pro479Ser",
"transcript": "XM_047425439.1",
"protein_id": "XP_047281395.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 542,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 4322,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT2",
"gene_hgnc_id": 24292,
"hgvs_c": "n.1972C>T",
"hgvs_p": null,
"transcript": "NR_135077.2",
"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": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT2",
"gene_hgnc_id": 24292,
"hgvs_c": "c.*89C>T",
"hgvs_p": null,
"transcript": "NM_001319654.1",
"protein_id": "NP_001306583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": -4,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT2",
"gene_hgnc_id": 24292,
"hgvs_c": "c.*132C>T",
"hgvs_p": null,
"transcript": "NM_001319656.1",
"protein_id": "NP_001306585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT2",
"gene_hgnc_id": 24292,
"hgvs_c": "c.*89C>T",
"hgvs_p": null,
"transcript": "XM_017016388.3",
"protein_id": "XP_016871877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": -4,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSGALNACT2",
"gene_hgnc_id": 24292,
"hgvs_c": "c.*89C>T",
"hgvs_p": null,
"transcript": "XM_047425441.1",
"protein_id": "XP_047281397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": -4,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CSGALNACT2",
"gene_hgnc_id": 24292,
"dbsnp": "rs2435381",
"frequency_reference_population": 0.25342807,
"hom_count_reference_population": 54615,
"allele_count_reference_population": 408929,
"gnomad_exomes_af": 0.258129,
"gnomad_genomes_af": 0.208237,
"gnomad_exomes_ac": 377267,
"gnomad_genomes_ac": 31662,
"gnomad_exomes_homalt": 50662,
"gnomad_genomes_homalt": 3953,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0014256834983825684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.1054,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.956,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000374466.4",
"gene_symbol": "CSGALNACT2",
"hgnc_id": 24292,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1435C>T",
"hgvs_p": "p.Pro479Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}