← Back to variant description
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-136659284-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136659284&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"PM1",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CD40LG",
"hgnc_id": 11935,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Gly219Arg",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": -18,
"transcript": "NM_000074.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -18,
"allele_count_reference_population": 18197,
"alphamissense_prediction": null,
"alphamissense_score": 0.1015,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "X",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Hyper-IgM syndrome type 1,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.006652802228927612,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 746,
"cds_end": null,
"cds_length": 786,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000074.3",
"gene_hgnc_id": 11935,
"gene_symbol": "CD40LG",
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Gly219Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370629.7",
"protein_coding": true,
"protein_id": "NP_000065.1",
"strand": true,
"transcript": "NM_000074.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 746,
"cds_end": null,
"cds_length": 786,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000370629.7",
"gene_hgnc_id": 11935,
"gene_symbol": "CD40LG",
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Gly219Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000074.3",
"protein_coding": true,
"protein_id": "ENSP00000359663.2",
"strand": true,
"transcript": "ENST00000370629.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 240,
"aa_ref": "G",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 614,
"cds_end": null,
"cds_length": 723,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000370628.2",
"gene_hgnc_id": 11935,
"gene_symbol": "CD40LG",
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Gly198Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359662.2",
"strand": true,
"transcript": "ENST00000370628.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 107,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": null,
"cds_end": null,
"cds_length": 324,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000695724.1",
"gene_hgnc_id": 11935,
"gene_symbol": "CD40LG",
"hgvs_c": "c.*273G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512122.1",
"strand": true,
"transcript": "ENST00000695724.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 63,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1472,
"cdna_start": null,
"cds_end": null,
"cds_length": 192,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000695725.1",
"gene_hgnc_id": 11935,
"gene_symbol": "CD40LG",
"hgvs_c": "c.*210G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512123.1",
"strand": true,
"transcript": "ENST00000695725.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3622,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000695726.1",
"gene_hgnc_id": 11935,
"gene_symbol": "CD40LG",
"hgvs_c": "n.2623G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000695726.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4457,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000695729.1",
"gene_hgnc_id": 11935,
"gene_symbol": "CD40LG",
"hgvs_c": "n.3458G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000695729.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs148594123",
"effect": "missense_variant",
"frequency_reference_population": 0.015042846,
"gene_hgnc_id": 11935,
"gene_symbol": "CD40LG",
"gnomad_exomes_ac": 17075,
"gnomad_exomes_af": 0.0155558,
"gnomad_exomes_homalt": 116,
"gnomad_genomes_ac": 1122,
"gnomad_genomes_af": 0.0100165,
"gnomad_genomes_homalt": 6,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 5977,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "Hyper-IgM syndrome type 1|not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.411,
"pos": 136659284,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.217,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000074.3"
}
]
}