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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: 17-80368043-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=80368043&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 80368043,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000582970.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF213",
"gene_hgnc_id": 14539,
"hgvs_c": "c.12055C>T",
"hgvs_p": "p.Arg4019Cys",
"transcript": "NM_001256071.3",
"protein_id": "NP_001243000.2",
"transcript_support_level": null,
"aa_start": 4019,
"aa_end": null,
"aa_length": 5207,
"cds_start": 12055,
"cds_end": null,
"cds_length": 15624,
"cdna_start": 12214,
"cdna_end": null,
"cdna_length": 21079,
"mane_select": "ENST00000582970.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF213",
"gene_hgnc_id": 14539,
"hgvs_c": "c.12055C>T",
"hgvs_p": "p.Arg4019Cys",
"transcript": "ENST00000582970.6",
"protein_id": "ENSP00000464087.1",
"transcript_support_level": 1,
"aa_start": 4019,
"aa_end": null,
"aa_length": 5207,
"cds_start": 12055,
"cds_end": null,
"cds_length": 15624,
"cdna_start": 12214,
"cdna_end": null,
"cdna_length": 21079,
"mane_select": "NM_001256071.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF213",
"gene_hgnc_id": 14539,
"hgvs_c": "c.12202C>T",
"hgvs_p": "p.Arg4068Cys",
"transcript": "NM_001410195.1",
"protein_id": "NP_001397124.1",
"transcript_support_level": null,
"aa_start": 4068,
"aa_end": null,
"aa_length": 5256,
"cds_start": 12202,
"cds_end": null,
"cds_length": 15771,
"cdna_start": 12272,
"cdna_end": null,
"cdna_length": 17652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF213",
"gene_hgnc_id": 14539,
"hgvs_c": "c.12202C>T",
"hgvs_p": "p.Arg4068Cys",
"transcript": "NM_020914.5",
"protein_id": "NP_065965.5",
"transcript_support_level": null,
"aa_start": 4068,
"aa_end": null,
"aa_length": 5256,
"cds_start": 12202,
"cds_end": null,
"cds_length": 15771,
"cdna_start": 12361,
"cdna_end": null,
"cdna_length": 17741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF213",
"gene_hgnc_id": 14539,
"hgvs_c": "c.12202C>T",
"hgvs_p": "p.Arg4068Cys",
"transcript": "ENST00000508628.6",
"protein_id": "ENSP00000425956.2",
"transcript_support_level": 5,
"aa_start": 4068,
"aa_end": null,
"aa_length": 5256,
"cds_start": 12202,
"cds_end": null,
"cds_length": 15771,
"cdna_start": 12347,
"cdna_end": null,
"cdna_length": 17730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF213",
"gene_hgnc_id": 14539,
"hgvs_c": "c.12055C>T",
"hgvs_p": "p.Arg4019Cys",
"transcript": "XM_047436482.1",
"protein_id": "XP_047292438.1",
"transcript_support_level": null,
"aa_start": 4019,
"aa_end": null,
"aa_length": 5207,
"cds_start": 12055,
"cds_end": null,
"cds_length": 15624,
"cdna_start": 12125,
"cdna_end": null,
"cdna_length": 20990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF213",
"gene_hgnc_id": 14539,
"hgvs_c": "c.11197C>T",
"hgvs_p": "p.Arg3733Cys",
"transcript": "XM_017024905.3",
"protein_id": "XP_016880394.1",
"transcript_support_level": null,
"aa_start": 3733,
"aa_end": null,
"aa_length": 4921,
"cds_start": 11197,
"cds_end": null,
"cds_length": 14766,
"cdna_start": 11262,
"cdna_end": null,
"cdna_length": 20127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF213",
"gene_hgnc_id": 14539,
"hgvs_c": "c.12202C>T",
"hgvs_p": "p.Arg4068Cys",
"transcript": "XM_011525084.3",
"protein_id": "XP_011523386.1",
"transcript_support_level": null,
"aa_start": 4068,
"aa_end": null,
"aa_length": 4825,
"cds_start": 12202,
"cds_end": null,
"cds_length": 14478,
"cdna_start": 12361,
"cdna_end": null,
"cdna_length": 14712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF213",
"gene_hgnc_id": 14539,
"hgvs_c": "c.12202C>T",
"hgvs_p": "p.Arg4068Cys",
"transcript": "XM_047436483.1",
"protein_id": "XP_047292439.1",
"transcript_support_level": null,
"aa_start": 4068,
"aa_end": null,
"aa_length": 4713,
"cds_start": 12202,
"cds_end": null,
"cds_length": 14142,
"cdna_start": 12361,
"cdna_end": null,
"cdna_length": 14944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF213",
"gene_hgnc_id": 14539,
"hgvs_c": "c.12202C>T",
"hgvs_p": "p.Arg4068Cys",
"transcript": "XM_011525086.3",
"protein_id": "XP_011523388.1",
"transcript_support_level": null,
"aa_start": 4068,
"aa_end": null,
"aa_length": 4192,
"cds_start": 12202,
"cds_end": null,
"cds_length": 12579,
"cdna_start": 12361,
"cdna_end": null,
"cdna_length": 14071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF213",
"gene_hgnc_id": 14539,
"hgvs_c": "n.1384C>T",
"hgvs_p": null,
"transcript": "ENST00000558116.5",
"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": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNF213-AS1",
"gene_hgnc_id": 54402,
"hgvs_c": "n.191-13228G>A",
"hgvs_p": null,
"transcript": "ENST00000572151.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNF213-AS1",
"gene_hgnc_id": 54402,
"hgvs_c": "n.191-12755G>A",
"hgvs_p": null,
"transcript": "ENST00000575034.5",
"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": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNF213-AS1",
"gene_hgnc_id": 54402,
"hgvs_c": "n.190-5835G>A",
"hgvs_p": null,
"transcript": "ENST00000667202.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNF213-AS1",
"gene_hgnc_id": 54402,
"hgvs_c": "n.241-12755G>A",
"hgvs_p": null,
"transcript": "NR_029376.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNF213",
"gene_hgnc_id": 14539,
"dbsnp": "rs139265462",
"frequency_reference_population": 0.0005160317,
"hom_count_reference_population": 0,
"allele_count_reference_population": 833,
"gnomad_exomes_af": 0.000510302,
"gnomad_genomes_af": 0.000571009,
"gnomad_exomes_ac": 746,
"gnomad_genomes_ac": 87,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1279788315296173,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.37,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1071,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.574,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4_Moderate,BP6,BS1",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Moderate",
"BP6",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000582970.6",
"gene_symbol": "RNF213",
"hgnc_id": 14539,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.12055C>T",
"hgvs_p": "p.Arg4019Cys"
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000575034.5",
"gene_symbol": "RNF213-AS1",
"hgnc_id": 54402,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.191-12755G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Moyamoya disease 2,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Moyamoya disease 2|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}