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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: 17-17793779-CCAGCAGCAGCAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17793779&ref=CCAGCAGCAGCAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17793779,
"ref": "CCAGCAGCAGCAG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000353383.6",
"consequences": [
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI1",
"gene_hgnc_id": 9834,
"hgvs_c": "c.861_872delGCAGCAGCAGCA",
"hgvs_p": "p.Gln288_Gln291del",
"transcript": "NM_030665.4",
"protein_id": "NP_109590.3",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 1906,
"cds_start": 861,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 7677,
"mane_select": "ENST00000353383.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI1",
"gene_hgnc_id": 9834,
"hgvs_c": "c.861_872delGCAGCAGCAGCA",
"hgvs_p": "p.Gln288_Gln291del",
"transcript": "ENST00000353383.6",
"protein_id": "ENSP00000323074.4",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 1906,
"cds_start": 861,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 7677,
"mane_select": "NM_030665.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI1",
"gene_hgnc_id": 9834,
"hgvs_c": "c.861_872delGCAGCAGCAGCA",
"hgvs_p": "p.Gln288_Gln291del",
"transcript": "ENST00000395774.1",
"protein_id": "ENSP00000379120.1",
"transcript_support_level": 2,
"aa_start": 287,
"aa_end": null,
"aa_length": 941,
"cds_start": 861,
"cds_end": null,
"cds_length": 2828,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI1",
"gene_hgnc_id": 9834,
"hgvs_c": "c.861_872delGCAGCAGCAGCA",
"hgvs_p": "p.Gln288_Gln291del",
"transcript": "XM_017024027.2",
"protein_id": "XP_016879516.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 1906,
"cds_start": 861,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI1",
"gene_hgnc_id": 9834,
"hgvs_c": "c.861_872delGCAGCAGCAGCA",
"hgvs_p": "p.Gln288_Gln291del",
"transcript": "XM_017024028.3",
"protein_id": "XP_016879517.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 1906,
"cds_start": 861,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 7349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI1",
"gene_hgnc_id": 9834,
"hgvs_c": "c.861_872delGCAGCAGCAGCA",
"hgvs_p": "p.Gln288_Gln291del",
"transcript": "XM_047435149.1",
"protein_id": "XP_047291105.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 1906,
"cds_start": 861,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 7838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI1",
"gene_hgnc_id": 9834,
"hgvs_c": "c.861_872delGCAGCAGCAGCA",
"hgvs_p": "p.Gln288_Gln291del",
"transcript": "XM_047435150.1",
"protein_id": "XP_047291106.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 1906,
"cds_start": 861,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI1",
"gene_hgnc_id": 9834,
"hgvs_c": "c.861_872delGCAGCAGCAGCA",
"hgvs_p": "p.Gln288_Gln291del",
"transcript": "XM_047435151.1",
"protein_id": "XP_047291107.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 1906,
"cds_start": 861,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 3627,
"cdna_end": null,
"cdna_length": 9959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI1",
"gene_hgnc_id": 9834,
"hgvs_c": "c.861_872delGCAGCAGCAGCA",
"hgvs_p": "p.Gln288_Gln291del",
"transcript": "XM_047435152.1",
"protein_id": "XP_047291108.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 1906,
"cds_start": 861,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 7835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAI1",
"gene_hgnc_id": 9834,
"hgvs_c": "c.861_872delGCAGCAGCAGCA",
"hgvs_p": "p.Gln288_Gln291del",
"transcript": "XM_047435153.1",
"protein_id": "XP_047291109.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 1906,
"cds_start": 861,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 7545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAI1",
"gene_hgnc_id": 9834,
"dbsnp": "rs371983878",
"frequency_reference_population": 0.034074787,
"hom_count_reference_population": 321,
"allele_count_reference_population": 46254,
"gnomad_exomes_af": 0.0331633,
"gnomad_genomes_af": 0.0488442,
"gnomad_exomes_ac": 42400,
"gnomad_genomes_ac": 3854,
"gnomad_exomes_homalt": 250,
"gnomad_genomes_homalt": 71,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.864,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000353383.6",
"gene_symbol": "RAI1",
"hgnc_id": 9834,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.861_872delGCAGCAGCAGCA",
"hgvs_p": "p.Gln288_Gln291del"
}
],
"clinvar_disease": "History of neurodevelopmental disorder,Inborn genetic diseases,RAI1-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:5",
"phenotype_combined": "History of neurodevelopmental disorder|RAI1-related disorder|Inborn genetic diseases|not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}