← 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: 12-120534893-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120534893&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120534893,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330474.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF10",
"gene_hgnc_id": 10055,
"hgvs_c": "c.82T>A",
"hgvs_p": "p.Ser28Thr",
"transcript": "NM_014868.5",
"protein_id": "NP_055683.3",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 811,
"cds_start": 82,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325954.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014868.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF10",
"gene_hgnc_id": 10055,
"hgvs_c": "c.82T>A",
"hgvs_p": "p.Ser28Thr",
"transcript": "ENST00000325954.9",
"protein_id": "ENSP00000322242.4",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 811,
"cds_start": 82,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014868.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325954.9"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC128071547",
"gene_hgnc_id": 0,
"hgvs_c": "c.197T>A",
"hgvs_p": "p.Phe66Tyr",
"transcript": "NM_001414895.1",
"protein_id": "NP_001401824.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 86,
"cds_start": 197,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000675818.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414895.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288623",
"gene_hgnc_id": 0,
"hgvs_c": "c.197T>A",
"hgvs_p": "p.Phe66Tyr",
"transcript": "ENST00000675818.1",
"protein_id": "ENSP00000502390.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 86,
"cds_start": 197,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001414895.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675818.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF10",
"gene_hgnc_id": 10055,
"hgvs_c": "c.82T>A",
"hgvs_p": "p.Ser28Thr",
"transcript": "NM_001330474.2",
"protein_id": "NP_001317403.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 816,
"cds_start": 82,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330474.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF10",
"gene_hgnc_id": 10055,
"hgvs_c": "c.82T>A",
"hgvs_p": "p.Ser28Thr",
"transcript": "ENST00000413266.6",
"protein_id": "ENSP00000415682.2",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 816,
"cds_start": 82,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413266.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF10",
"gene_hgnc_id": 10055,
"hgvs_c": "c.82T>A",
"hgvs_p": "p.Ser28Thr",
"transcript": "ENST00000542438.1",
"protein_id": "ENSP00000444770.1",
"transcript_support_level": 4,
"aa_start": 28,
"aa_end": null,
"aa_length": 117,
"cds_start": 82,
"cds_end": null,
"cds_length": 356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542438.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF10",
"gene_hgnc_id": 10055,
"hgvs_c": "n.22T>A",
"hgvs_p": null,
"transcript": "ENST00000536869.5",
"protein_id": "ENSP00000443790.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000536869.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF10",
"gene_hgnc_id": 10055,
"hgvs_c": "n.82T>A",
"hgvs_p": null,
"transcript": "ENST00000538796.5",
"protein_id": "ENSP00000443000.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000538796.5"
},
{
"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": "RNF10",
"gene_hgnc_id": 10055,
"hgvs_c": "n.40T>A",
"hgvs_p": null,
"transcript": "ENST00000551139.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000551139.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF10",
"gene_hgnc_id": 10055,
"hgvs_c": "c.*57T>A",
"hgvs_p": null,
"transcript": "ENST00000539486.1",
"protein_id": "ENSP00000438638.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 7,
"cds_start": null,
"cds_end": null,
"cds_length": 25,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539486.1"
}
],
"gene_symbol": "RNF10",
"gene_hgnc_id": 10055,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.272281289100647,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.248,
"revel_prediction": "Benign",
"alphamissense_score": 0.0705,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.611,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330474.2",
"gene_symbol": "RNF10",
"hgnc_id": 10055,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.82T>A",
"hgvs_p": "p.Ser28Thr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001414895.1",
"gene_symbol": "LOC128071547",
"hgnc_id": 0,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.197T>A",
"hgvs_p": "p.Phe66Tyr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000675818.1",
"gene_symbol": "ENSG00000288623",
"hgnc_id": 0,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.197T>A",
"hgvs_p": "p.Phe66Tyr"
}
],
"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
}