← Back to variant description
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: 7-5741400-GTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5741400&ref=GTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5741400,
"ref": "GTC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000389902.8",
"consequences": [
{
"aa_ref": "ET",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "c.615_616delGA",
"hgvs_p": "p.Glu205fs",
"transcript": "NM_207111.4",
"protein_id": "NP_996994.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 923,
"cds_start": 615,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 5777,
"mane_select": "ENST00000389902.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ET",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "c.615_616delGA",
"hgvs_p": "p.Glu205fs",
"transcript": "ENST00000389902.8",
"protein_id": "ENSP00000374552.3",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 923,
"cds_start": 615,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 5777,
"mane_select": "NM_207111.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ET",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "c.444_445delGA",
"hgvs_p": "p.Glu148fs",
"transcript": "ENST00000425013.6",
"protein_id": "ENSP00000404602.2",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 866,
"cds_start": 444,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 5639,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "n.444_445delGA",
"hgvs_p": null,
"transcript": "ENST00000389900.8",
"protein_id": "ENSP00000374550.4",
"transcript_support_level": 1,
"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": 3104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ET",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "c.444_445delGA",
"hgvs_p": "p.Glu148fs",
"transcript": "NM_001377156.1",
"protein_id": "NP_001364085.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 866,
"cds_start": 444,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 5651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ET",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "c.444_445delGA",
"hgvs_p": "p.Glu148fs",
"transcript": "NM_207116.3",
"protein_id": "NP_996999.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 866,
"cds_start": 444,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ET",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "c.615_616delGA",
"hgvs_p": "p.Glu205fs",
"transcript": "XM_005249785.3",
"protein_id": "XP_005249842.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 923,
"cds_start": 615,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 6732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ET",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "c.615_616delGA",
"hgvs_p": "p.Glu205fs",
"transcript": "XM_047420524.1",
"protein_id": "XP_047276480.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 923,
"cds_start": 615,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 6831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ET",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "c.615_616delGA",
"hgvs_p": "p.Glu205fs",
"transcript": "XM_047420525.1",
"protein_id": "XP_047276481.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 923,
"cds_start": 615,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 6545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ET",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "c.444_445delGA",
"hgvs_p": "p.Glu148fs",
"transcript": "XM_047420526.1",
"protein_id": "XP_047276482.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 866,
"cds_start": 444,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ET",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "c.615_616delGA",
"hgvs_p": "p.Glu205fs",
"transcript": "XM_047420527.1",
"protein_id": "XP_047276483.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 722,
"cds_start": 615,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ET",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "c.615_616delGA",
"hgvs_p": "p.Glu205fs",
"transcript": "XM_047420528.1",
"protein_id": "XP_047276484.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 722,
"cds_start": 615,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "c.-184-10585_-184-10584delGA",
"hgvs_p": null,
"transcript": "XM_047420529.1",
"protein_id": "XP_047276485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4566,
"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": "RNF216",
"gene_hgnc_id": 21698,
"hgvs_c": "n.*415_*416delGA",
"hgvs_p": null,
"transcript": "ENST00000411812.1",
"protein_id": "ENSP00000409837.1",
"transcript_support_level": 5,
"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": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"dbsnp": "rs387907370",
"frequency_reference_population": 0.000012312896,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000123129,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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,
"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": 0.049,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000389902.8",
"gene_symbol": "RNF216",
"hgnc_id": 21698,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.615_616delGA",
"hgvs_p": "p.Glu205fs"
}
],
"clinvar_disease": "Cerebellar ataxia-hypogonadism syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Cerebellar ataxia-hypogonadism syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}