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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: 2-17515339-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=17515339&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RAD51AP2",
"hgnc_id": 34417,
"hgvs_c": "c.3077G>T",
"hgvs_p": "p.Arg1026Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001099218.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1124,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07280349731445312,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "R",
"aa_start": 1026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3730,
"cdna_start": 3102,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3077,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001099218.3",
"gene_hgnc_id": 34417,
"gene_symbol": "RAD51AP2",
"hgvs_c": "c.3077G>T",
"hgvs_p": "p.Arg1026Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399080.3",
"protein_coding": true,
"protein_id": "NP_001092688.1",
"strand": false,
"transcript": "NM_001099218.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "R",
"aa_start": 1026,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3730,
"cdna_start": 3102,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3077,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000399080.3",
"gene_hgnc_id": 34417,
"gene_symbol": "RAD51AP2",
"hgvs_c": "c.3077G>T",
"hgvs_p": "p.Arg1026Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001099218.3",
"protein_coding": true,
"protein_id": "ENSP00000382030.2",
"strand": false,
"transcript": "ENST00000399080.3",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "R",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4082,
"cdna_start": 3459,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3050,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321233.1",
"gene_hgnc_id": 34417,
"gene_symbol": "RAD51AP2",
"hgvs_c": "c.3050G>T",
"hgvs_p": "p.Arg1017Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308162.1",
"strand": false,
"transcript": "NM_001321233.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "R",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4324,
"cdna_start": 3696,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3050,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024453116.2",
"gene_hgnc_id": 34417,
"gene_symbol": "RAD51AP2",
"hgvs_c": "c.3050G>T",
"hgvs_p": "p.Arg1017Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308884.1",
"strand": false,
"transcript": "XM_024453116.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "R",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4323,
"cdna_start": 3695,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3050,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024453117.2",
"gene_hgnc_id": 34417,
"gene_symbol": "RAD51AP2",
"hgvs_c": "c.3050G>T",
"hgvs_p": "p.Arg1017Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308885.1",
"strand": false,
"transcript": "XM_024453117.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "R",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19301,
"cdna_start": 18673,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3050,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047445730.1",
"gene_hgnc_id": 34417,
"gene_symbol": "RAD51AP2",
"hgvs_c": "c.3050G>T",
"hgvs_p": "p.Arg1017Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301686.1",
"strand": false,
"transcript": "XM_047445730.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "R",
"aa_start": 1026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 3102,
"cds_end": null,
"cds_length": 3399,
"cds_start": 3077,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011533084.3",
"gene_hgnc_id": 34417,
"gene_symbol": "RAD51AP2",
"hgvs_c": "c.3077G>T",
"hgvs_p": "p.Arg1026Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531386.1",
"strand": false,
"transcript": "XM_011533084.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs760916506",
"effect": "missense_variant",
"frequency_reference_population": 6.849428e-7,
"gene_hgnc_id": 34417,
"gene_symbol": "RAD51AP2",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84943e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.174,
"pos": 17515339,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.018,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001099218.3"
}
]
}