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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: 10-19128252-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=19128252&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 19128252,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001142308.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.975T>C",
"hgvs_p": "p.Gly325Gly",
"transcript": "NM_001142308.3",
"protein_id": "NP_001135780.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 2156,
"cds_start": 975,
"cds_end": null,
"cds_length": 6471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000454679.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142308.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.975T>C",
"hgvs_p": "p.Gly325Gly",
"transcript": "ENST00000454679.7",
"protein_id": "ENSP00000412763.3",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 2156,
"cds_start": 975,
"cds_end": null,
"cds_length": 6471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142308.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454679.7"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.1035T>C",
"hgvs_p": "p.Gly345Gly",
"transcript": "XM_011519453.3",
"protein_id": "XP_011517755.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2176,
"cds_start": 1035,
"cds_end": null,
"cds_length": 6531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519453.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.954T>C",
"hgvs_p": "p.Gly318Gly",
"transcript": "XM_011519454.2",
"protein_id": "XP_011517756.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 2149,
"cds_start": 954,
"cds_end": null,
"cds_length": 6450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519454.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.1035T>C",
"hgvs_p": "p.Gly345Gly",
"transcript": "XM_011519455.3",
"protein_id": "XP_011517757.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2118,
"cds_start": 1035,
"cds_end": null,
"cds_length": 6357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519455.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.762T>C",
"hgvs_p": "p.Gly254Gly",
"transcript": "XM_017016182.1",
"protein_id": "XP_016871671.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 2085,
"cds_start": 762,
"cds_end": null,
"cds_length": 6258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016182.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.1035T>C",
"hgvs_p": "p.Gly345Gly",
"transcript": "XM_017016183.2",
"protein_id": "XP_016871672.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 2080,
"cds_start": 1035,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016183.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.1035T>C",
"hgvs_p": "p.Gly345Gly",
"transcript": "XM_047425167.1",
"protein_id": "XP_047281123.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1834,
"cds_start": 1035,
"cds_end": null,
"cds_length": 5505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425167.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"hgvs_c": "c.1035T>C",
"hgvs_p": "p.Gly345Gly",
"transcript": "XM_047425168.1",
"protein_id": "XP_047281124.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1182,
"cds_start": 1035,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425168.1"
}
],
"gene_symbol": "MALRD1",
"gene_hgnc_id": 24331,
"dbsnp": "rs11008573",
"frequency_reference_population": 0.1743098,
"hom_count_reference_population": 19948,
"allele_count_reference_population": 214909,
"gnomad_exomes_af": 0.180096,
"gnomad_genomes_af": 0.13324,
"gnomad_exomes_ac": 194624,
"gnomad_genomes_ac": 20285,
"gnomad_exomes_homalt": 18272,
"gnomad_genomes_homalt": 1676,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.165,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001142308.3",
"gene_symbol": "MALRD1",
"hgnc_id": 24331,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.975T>C",
"hgvs_p": "p.Gly325Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}