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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: 6-37354251-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=37354251&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 37354251,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003958.4",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF8",
"gene_hgnc_id": 10071,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Trp29Cys",
"transcript": "NM_003958.4",
"protein_id": "NP_003949.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 485,
"cds_start": 87,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 5616,
"mane_select": "ENST00000373479.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF8",
"gene_hgnc_id": 10071,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Trp29Cys",
"transcript": "ENST00000373479.9",
"protein_id": "ENSP00000362578.4",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 485,
"cds_start": 87,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 5616,
"mane_select": "NM_003958.4",
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF8",
"gene_hgnc_id": 10071,
"hgvs_c": "n.180G>C",
"hgvs_p": null,
"transcript": "ENST00000479516.1",
"protein_id": null,
"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": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF8",
"gene_hgnc_id": 10071,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Trp29Cys",
"transcript": "NM_183078.3",
"protein_id": "NP_898901.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 448,
"cds_start": 87,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 5411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF8",
"gene_hgnc_id": 10071,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Trp29Cys",
"transcript": "ENST00000469731.5",
"protein_id": "ENSP00000418879.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 448,
"cds_start": 87,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 1800,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF8",
"gene_hgnc_id": 10071,
"hgvs_c": "n.87G>C",
"hgvs_p": null,
"transcript": "ENST00000229866.10",
"protein_id": "ENSP00000229866.6",
"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": 2124,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF8",
"gene_hgnc_id": 10071,
"hgvs_c": "n.87G>C",
"hgvs_p": null,
"transcript": "ENST00000469316.5",
"protein_id": "ENSP00000419859.1",
"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": 608,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF8",
"gene_hgnc_id": 10071,
"hgvs_c": "n.87G>C",
"hgvs_p": null,
"transcript": "ENST00000494320.5",
"protein_id": "ENSP00000420268.1",
"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": 977,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF8",
"gene_hgnc_id": 10071,
"hgvs_c": "n.269G>C",
"hgvs_p": null,
"transcript": "NR_046399.2",
"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": 5722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNF8",
"gene_hgnc_id": 10071,
"hgvs_c": "c.-61+133G>C",
"hgvs_p": null,
"transcript": "ENST00000487950.1",
"protein_id": "ENSP00000417736.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": -4,
"cds_end": null,
"cds_length": 616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNF8",
"gene_hgnc_id": 10071,
"dbsnp": "rs769291213",
"frequency_reference_population": 0.000010841615,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000105935,
"gnomad_genomes_af": 0.0000131513,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8642204999923706,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.686,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7357,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.866,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003958.4",
"gene_symbol": "RNF8",
"hgnc_id": 10071,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Trp29Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}