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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-16845836-A-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=16845836&ref=A&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 16845836,
"ref": "A",
"alt": "AT",
"effect": "frameshift_variant",
"transcript": "NM_002893.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1200dupA",
"hgvs_p": "p.Trp401fs",
"transcript": "NM_002893.4",
"protein_id": "NP_002884.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 425,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": "ENST00000380087.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1200dupA",
"hgvs_p": "p.Trp401fs",
"transcript": "ENST00000380087.7",
"protein_id": "ENSP00000369427.3",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 425,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": "NM_002893.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1332dupA",
"hgvs_p": "p.Trp445fs",
"transcript": "NM_001198719.2",
"protein_id": "NP_001185648.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 469,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1332dupA",
"hgvs_p": "p.Trp445fs",
"transcript": "ENST00000380084.8",
"protein_id": "ENSP00000369424.4",
"transcript_support_level": 2,
"aa_start": 444,
"aa_end": null,
"aa_length": 469,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1173dupA",
"hgvs_p": "p.Trp392fs",
"transcript": "ENST00000404022.5",
"protein_id": "ENSP00000386068.1",
"transcript_support_level": 5,
"aa_start": 391,
"aa_end": null,
"aa_length": 416,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.180dupA",
"hgvs_p": "p.Trp61fs",
"transcript": "ENST00000425696.5",
"protein_id": "ENSP00000415747.1",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 85,
"cds_start": 180,
"cds_end": null,
"cds_length": 258,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1467dupA",
"hgvs_p": "p.Trp490fs",
"transcript": "XM_047442291.1",
"protein_id": "XP_047298247.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 514,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "c.1335dupA",
"hgvs_p": "p.Trp446fs",
"transcript": "XM_047442292.1",
"protein_id": "XP_047298248.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 470,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "n.395dupA",
"hgvs_p": null,
"transcript": "ENST00000330735.7",
"protein_id": null,
"transcript_support_level": 2,
"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": 858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "n.3572dupA",
"hgvs_p": null,
"transcript": "ENST00000465244.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"hgvs_c": "n.*34dupA",
"hgvs_p": null,
"transcript": "ENST00000481586.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBBP7",
"gene_hgnc_id": 9890,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.028,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002893.4",
"gene_symbol": "RBBP7",
"hgnc_id": 9890,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1200dupA",
"hgvs_p": "p.Trp401fs"
}
],
"clinvar_disease": " 9, X-linked,Spermatogenic failure",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spermatogenic failure, X-linked, 9",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}