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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: X-152865933-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=152865933&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 152865933,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000370274.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Arg220Gly",
"transcript": "NM_015922.3",
"protein_id": "NP_057006.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 373,
"cds_start": 658,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": "ENST00000370274.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Arg220Gly",
"transcript": "ENST00000370274.8",
"protein_id": "ENSP00000359297.3",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 373,
"cds_start": 658,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": "NM_015922.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Arg220Gly",
"transcript": "NM_001129765.2",
"protein_id": "NP_001123237.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 373,
"cds_start": 658,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Arg220Gly",
"transcript": "NM_001441099.1",
"protein_id": "NP_001428028.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 373,
"cds_start": 658,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Arg220Gly",
"transcript": "ENST00000440023.5",
"protein_id": "ENSP00000391854.1",
"transcript_support_level": 5,
"aa_start": 220,
"aa_end": null,
"aa_length": 373,
"cds_start": 658,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Arg220Gly",
"transcript": "ENST00000432467.1",
"protein_id": "ENSP00000396266.1",
"transcript_support_level": 3,
"aa_start": 220,
"aa_end": null,
"aa_length": 253,
"cds_start": 658,
"cds_end": null,
"cds_length": 763,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Arg236Gly",
"transcript": "XM_017029564.2",
"protein_id": "XP_016885053.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 389,
"cds_start": 706,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"dbsnp": "rs782454035",
"frequency_reference_population": 0.000065216496,
"hom_count_reference_population": 27,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000710338,
"gnomad_genomes_af": 0.00000882761,
"gnomad_exomes_ac": 78,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.60893315076828,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.411,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2092,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.124,
"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": "BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000370274.8",
"gene_symbol": "NSDHL",
"hgnc_id": 13398,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Arg220Gly"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}