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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: 7-5741113-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5741113&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5741113,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000389902.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.904C>G",
"hgvs_p": "p.Gln302Glu",
"transcript": "NM_207111.4",
"protein_id": "NP_996994.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 923,
"cds_start": 904,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 5777,
"mane_select": "ENST00000389902.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.904C>G",
"hgvs_p": "p.Gln302Glu",
"transcript": "ENST00000389902.8",
"protein_id": "ENSP00000374552.3",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 923,
"cds_start": 904,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 5777,
"mane_select": "NM_207111.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.733C>G",
"hgvs_p": "p.Gln245Glu",
"transcript": "ENST00000425013.6",
"protein_id": "ENSP00000404602.2",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 866,
"cds_start": 733,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 958,
"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.733C>G",
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.733C>G",
"hgvs_p": "p.Gln245Glu",
"transcript": "NM_001377156.1",
"protein_id": "NP_001364085.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 866,
"cds_start": 733,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.733C>G",
"hgvs_p": "p.Gln245Glu",
"transcript": "NM_207116.3",
"protein_id": "NP_996999.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 866,
"cds_start": 733,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.904C>G",
"hgvs_p": "p.Gln302Glu",
"transcript": "XM_005249785.3",
"protein_id": "XP_005249842.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 923,
"cds_start": 904,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 6732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.904C>G",
"hgvs_p": "p.Gln302Glu",
"transcript": "XM_047420524.1",
"protein_id": "XP_047276480.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 923,
"cds_start": 904,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 6831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.904C>G",
"hgvs_p": "p.Gln302Glu",
"transcript": "XM_047420525.1",
"protein_id": "XP_047276481.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 923,
"cds_start": 904,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 6545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.733C>G",
"hgvs_p": "p.Gln245Glu",
"transcript": "XM_047420526.1",
"protein_id": "XP_047276482.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 866,
"cds_start": 733,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.904C>G",
"hgvs_p": "p.Gln302Glu",
"transcript": "XM_047420527.1",
"protein_id": "XP_047276483.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 722,
"cds_start": 904,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.904C>G",
"hgvs_p": "p.Gln302Glu",
"transcript": "XM_047420528.1",
"protein_id": "XP_047276484.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 722,
"cds_start": 904,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1096,
"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.-184-10296C>G",
"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
}
],
"gene_symbol": "RNF216",
"gene_hgnc_id": 21698,
"dbsnp": "rs373785974",
"frequency_reference_population": 0.000017967737,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000191532,
"gnomad_genomes_af": 0.00000657419,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14901718497276306,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.0677,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.832,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000389902.8",
"gene_symbol": "RNF216",
"hgnc_id": 21698,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.904C>G",
"hgvs_p": "p.Gln302Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}