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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: 6-32178557-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32178557&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNF5",
"hgnc_id": 10068,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_006913.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4,BP6_Moderate",
"acmg_score": -1,
"allele_count_reference_population": 20,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2472,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "6",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3464367389678955,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 180,
"aa_ref": "R",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1117,
"cdna_start": 153,
"cds_end": null,
"cds_length": 543,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_006913.4",
"gene_hgnc_id": 10068,
"gene_symbol": "RNF5",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375094.4",
"protein_coding": true,
"protein_id": "NP_008844.1",
"strand": true,
"transcript": "NM_006913.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 180,
"aa_ref": "R",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1117,
"cdna_start": 153,
"cds_end": null,
"cds_length": 543,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000375094.4",
"gene_hgnc_id": 10068,
"gene_symbol": "RNF5",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006913.4",
"protein_coding": true,
"protein_id": "ENSP00000364235.3",
"strand": true,
"transcript": "ENST00000375094.4",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 186,
"aa_ref": "R",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1096,
"cdna_start": 115,
"cds_end": null,
"cds_length": 561,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000876421.1",
"gene_hgnc_id": 10068,
"gene_symbol": "RNF5",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546480.1",
"strand": true,
"transcript": "ENST00000876421.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 178,
"aa_ref": "R",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1043,
"cdna_start": 92,
"cds_end": null,
"cds_length": 537,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000876424.1",
"gene_hgnc_id": 10068,
"gene_symbol": "RNF5",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546483.1",
"strand": true,
"transcript": "ENST00000876424.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 177,
"aa_ref": "R",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1041,
"cdna_start": 90,
"cds_end": null,
"cds_length": 534,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000876423.1",
"gene_hgnc_id": 10068,
"gene_symbol": "RNF5",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546482.1",
"strand": true,
"transcript": "ENST00000876423.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 165,
"aa_ref": "R",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 984,
"cdna_start": 68,
"cds_end": null,
"cds_length": 498,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000921946.1",
"gene_hgnc_id": 10068,
"gene_symbol": "RNF5",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592005.1",
"strand": true,
"transcript": "ENST00000921946.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 73,
"aa_ref": "R",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 715,
"cdna_start": 92,
"cds_end": null,
"cds_length": 222,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000876425.1",
"gene_hgnc_id": 10068,
"gene_symbol": "RNF5",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546484.1",
"strand": true,
"transcript": "ENST00000876425.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 71,
"aa_ref": "R",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 734,
"cdna_start": 104,
"cds_end": null,
"cds_length": 216,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000876422.1",
"gene_hgnc_id": 10068,
"gene_symbol": "RNF5",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546481.1",
"strand": true,
"transcript": "ENST00000876422.1",
"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": 357,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000487940.1",
"gene_hgnc_id": 10068,
"gene_symbol": "RNF5",
"hgvs_c": "n.121C>T",
"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": "ENST00000487940.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs377192058",
"effect": "missense_variant",
"frequency_reference_population": 0.000013724632,
"gene_hgnc_id": 10068,
"gene_symbol": "RNF5",
"gnomad_exomes_ac": 20,
"gnomad_exomes_af": 0.0000137246,
"gnomad_exomes_homalt": 0,
"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": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.357,
"pos": 32178557,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.598,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006913.4"
}
]
}