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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: 17-80369782-ACA-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=80369782&ref=ACA&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "RNF213",
"hgnc_id": 14539,
"hgvs_c": "c.12486_12489dupCACA",
"hgvs_p": "p.Lys4164fs",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_020914.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RNF213-AS1",
"hgnc_id": 54402,
"hgvs_c": "n.191-14495_191-14492dupGTGT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000575034.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACACAC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "HK?",
"aa_end": null,
"aa_length": 5207,
"aa_ref": "K",
"aa_start": 4115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 21079,
"cdna_start": 12502,
"cds_end": null,
"cds_length": 15624,
"cds_start": 12343,
"consequences": [
"frameshift_variant"
],
"exon_count": 68,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001256071.3",
"gene_hgnc_id": 14539,
"gene_symbol": "RNF213",
"hgvs_c": "c.12339_12342dupCACA",
"hgvs_p": "p.Lys4115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000582970.6",
"protein_coding": true,
"protein_id": "NP_001243000.2",
"strand": true,
"transcript": "NM_001256071.3",
"transcript_support_level": null
},
{
"aa_alt": "HK?",
"aa_end": null,
"aa_length": 5207,
"aa_ref": "K",
"aa_start": 4115,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 21079,
"cdna_start": 12502,
"cds_end": null,
"cds_length": 15624,
"cds_start": 12343,
"consequences": [
"frameshift_variant"
],
"exon_count": 68,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000582970.6",
"gene_hgnc_id": 14539,
"gene_symbol": "RNF213",
"hgvs_c": "c.12339_12342dupCACA",
"hgvs_p": "p.Lys4115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001256071.3",
"protein_coding": true,
"protein_id": "ENSP00000464087.1",
"strand": true,
"transcript": "ENST00000582970.6",
"transcript_support_level": 1
},
{
"aa_alt": "HK?",
"aa_end": null,
"aa_length": 5256,
"aa_ref": "K",
"aa_start": 4164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17652,
"cdna_start": 12560,
"cds_end": null,
"cds_length": 15771,
"cds_start": 12490,
"consequences": [
"frameshift_variant"
],
"exon_count": 69,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001410195.1",
"gene_hgnc_id": 14539,
"gene_symbol": "RNF213",
"hgvs_c": "c.12486_12489dupCACA",
"hgvs_p": "p.Lys4164fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397124.1",
"strand": true,
"transcript": "NM_001410195.1",
"transcript_support_level": null
},
{
"aa_alt": "HK?",
"aa_end": null,
"aa_length": 5256,
"aa_ref": "K",
"aa_start": 4164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17741,
"cdna_start": 12649,
"cds_end": null,
"cds_length": 15771,
"cds_start": 12490,
"consequences": [
"frameshift_variant"
],
"exon_count": 69,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_020914.5",
"gene_hgnc_id": 14539,
"gene_symbol": "RNF213",
"hgvs_c": "c.12486_12489dupCACA",
"hgvs_p": "p.Lys4164fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065965.5",
"strand": true,
"transcript": "NM_020914.5",
"transcript_support_level": null
},
{
"aa_alt": "HK?",
"aa_end": null,
"aa_length": 5256,
"aa_ref": "K",
"aa_start": 4164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17730,
"cdna_start": 12635,
"cds_end": null,
"cds_length": 15771,
"cds_start": 12490,
"consequences": [
"frameshift_variant"
],
"exon_count": 69,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000508628.6",
"gene_hgnc_id": 14539,
"gene_symbol": "RNF213",
"hgvs_c": "c.12486_12489dupCACA",
"hgvs_p": "p.Lys4164fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425956.2",
"strand": true,
"transcript": "ENST00000508628.6",
"transcript_support_level": 5
},
{
"aa_alt": "HK?",
"aa_end": null,
"aa_length": 5207,
"aa_ref": "K",
"aa_start": 4115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20990,
"cdna_start": 12413,
"cds_end": null,
"cds_length": 15624,
"cds_start": 12343,
"consequences": [
"frameshift_variant"
],
"exon_count": 68,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047436482.1",
"gene_hgnc_id": 14539,
"gene_symbol": "RNF213",
"hgvs_c": "c.12339_12342dupCACA",
"hgvs_p": "p.Lys4115fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292438.1",
"strand": true,
"transcript": "XM_047436482.1",
"transcript_support_level": null
},
{
"aa_alt": "HK?",
"aa_end": null,
"aa_length": 4921,
"aa_ref": "K",
"aa_start": 3829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20127,
"cdna_start": 11550,
"cds_end": null,
"cds_length": 14766,
"cds_start": 11485,
"consequences": [
"frameshift_variant"
],
"exon_count": 64,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017024905.3",
"gene_hgnc_id": 14539,
"gene_symbol": "RNF213",
"hgvs_c": "c.11481_11484dupCACA",
"hgvs_p": "p.Lys3829fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880394.1",
"strand": true,
"transcript": "XM_017024905.3",
"transcript_support_level": null
},
{
"aa_alt": "HK?",
"aa_end": null,
"aa_length": 4825,
"aa_ref": "K",
"aa_start": 4164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14712,
"cdna_start": 12649,
"cds_end": null,
"cds_length": 14478,
"cds_start": 12490,
"consequences": [
"frameshift_variant"
],
"exon_count": 61,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_011525084.3",
"gene_hgnc_id": 14539,
"gene_symbol": "RNF213",
"hgvs_c": "c.12486_12489dupCACA",
"hgvs_p": "p.Lys4164fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523386.1",
"strand": true,
"transcript": "XM_011525084.3",
"transcript_support_level": null
},
{
"aa_alt": "HK?",
"aa_end": null,
"aa_length": 4713,
"aa_ref": "K",
"aa_start": 4164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14944,
"cdna_start": 12649,
"cds_end": null,
"cds_length": 14142,
"cds_start": 12490,
"consequences": [
"frameshift_variant"
],
"exon_count": 59,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_047436483.1",
"gene_hgnc_id": 14539,
"gene_symbol": "RNF213",
"hgvs_c": "c.12486_12489dupCACA",
"hgvs_p": "p.Lys4164fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292439.1",
"strand": true,
"transcript": "XM_047436483.1",
"transcript_support_level": null
},
{
"aa_alt": "HK?",
"aa_end": null,
"aa_length": 4192,
"aa_ref": "K",
"aa_start": 4164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14071,
"cdna_start": 12649,
"cds_end": null,
"cds_length": 12579,
"cds_start": 12490,
"consequences": [
"frameshift_variant"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_011525086.3",
"gene_hgnc_id": 14539,
"gene_symbol": "RNF213",
"hgvs_c": "c.12486_12489dupCACA",
"hgvs_p": "p.Lys4164fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523388.1",
"strand": true,
"transcript": "XM_011525086.3",
"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": 3768,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000558116.5",
"gene_hgnc_id": 14539,
"gene_symbol": "RNF213",
"hgvs_c": "n.1668_1671dupCACA",
"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": "ENST00000558116.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000572151.1",
"gene_hgnc_id": 54402,
"gene_symbol": "RNF213-AS1",
"hgvs_c": "n.191-14968_191-14965dupGTGT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000572151.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000575034.5",
"gene_hgnc_id": 54402,
"gene_symbol": "RNF213-AS1",
"hgvs_c": "n.191-14495_191-14492dupGTGT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000575034.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000667202.1",
"gene_hgnc_id": 54402,
"gene_symbol": "RNF213-AS1",
"hgvs_c": "n.190-7575_190-7572dupGTGT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000667202.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3699,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_029376.1",
"gene_hgnc_id": 54402,
"gene_symbol": "RNF213-AS1",
"hgvs_c": "n.241-14495_241-14492dupGTGT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_029376.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "frameshift_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 14539,
"gene_symbol": "RNF213",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": "Uncertain_significance",
"phylop100way_score": 4.971,
"pos": 80369778,
"ref": "AC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_020914.5"
}
]
}