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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: 17-17793787-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17793787&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17793787,
"ref": "AG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000353383.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"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.840delG",
"hgvs_p": "p.Gln280fs",
"transcript": "NM_030665.4",
"protein_id": "NP_109590.3",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 1906,
"cds_start": 840,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 7677,
"mane_select": "ENST00000353383.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"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.840delG",
"hgvs_p": "p.Gln280fs",
"transcript": "ENST00000353383.6",
"protein_id": "ENSP00000323074.4",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 1906,
"cds_start": 840,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 7677,
"mane_select": "NM_030665.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"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.840delG",
"hgvs_p": "p.Gln280fs",
"transcript": "ENST00000395774.1",
"protein_id": "ENSP00000379120.1",
"transcript_support_level": 2,
"aa_start": 280,
"aa_end": null,
"aa_length": 941,
"cds_start": 840,
"cds_end": null,
"cds_length": 2828,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"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.840delG",
"hgvs_p": "p.Gln280fs",
"transcript": "XM_017024027.2",
"protein_id": "XP_016879516.2",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 1906,
"cds_start": 840,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"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.840delG",
"hgvs_p": "p.Gln280fs",
"transcript": "XM_017024028.3",
"protein_id": "XP_016879517.2",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 1906,
"cds_start": 840,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 7349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"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.840delG",
"hgvs_p": "p.Gln280fs",
"transcript": "XM_047435149.1",
"protein_id": "XP_047291105.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 1906,
"cds_start": 840,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 7838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"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.840delG",
"hgvs_p": "p.Gln280fs",
"transcript": "XM_047435150.1",
"protein_id": "XP_047291106.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 1906,
"cds_start": 840,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"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.840delG",
"hgvs_p": "p.Gln280fs",
"transcript": "XM_047435151.1",
"protein_id": "XP_047291107.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 1906,
"cds_start": 840,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 3606,
"cdna_end": null,
"cdna_length": 9959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"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.840delG",
"hgvs_p": "p.Gln280fs",
"transcript": "XM_047435152.1",
"protein_id": "XP_047291108.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 1906,
"cds_start": 840,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 7835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"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.840delG",
"hgvs_p": "p.Gln280fs",
"transcript": "XM_047435153.1",
"protein_id": "XP_047291109.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 1906,
"cds_start": 840,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 7545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAI1",
"gene_hgnc_id": 9834,
"dbsnp": "rs34083643",
"frequency_reference_population": 0.33051383,
"hom_count_reference_population": 59809,
"allele_count_reference_population": 500548,
"gnomad_exomes_af": 0.325627,
"gnomad_genomes_af": 0.3764,
"gnomad_exomes_ac": 445687,
"gnomad_genomes_ac": 54861,
"gnomad_exomes_homalt": 48739,
"gnomad_genomes_homalt": 11070,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"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": 0.466,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "PVS1,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 16,
"pathogenic_score": 8,
"criteria": [
"PVS1",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000353383.6",
"gene_symbol": "RAI1",
"hgnc_id": 9834,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.840delG",
"hgvs_p": "p.Gln280fs"
}
],
"clinvar_disease": "Inborn genetic diseases,Smith-Magenis syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Smith-Magenis syndrome|Inborn genetic diseases|not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}