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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: 18-32042247-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=32042247&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 32042247,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000217740.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF125",
"gene_hgnc_id": 21150,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Leu129Leu",
"transcript": "NM_017831.4",
"protein_id": "NP_060301.2",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 232,
"cds_start": 387,
"cds_end": null,
"cds_length": 699,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 5573,
"mane_select": "ENST00000217740.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF125",
"gene_hgnc_id": 21150,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Leu129Leu",
"transcript": "ENST00000217740.4",
"protein_id": "ENSP00000217740.3",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 232,
"cds_start": 387,
"cds_end": null,
"cds_length": 699,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 5573,
"mane_select": "NM_017831.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF125",
"gene_hgnc_id": 21150,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Leu129Leu",
"transcript": "NM_001436860.1",
"protein_id": "NP_001423789.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 227,
"cds_start": 387,
"cds_end": null,
"cds_length": 684,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF125",
"gene_hgnc_id": 21150,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Leu129Leu",
"transcript": "ENST00000718283.1",
"protein_id": "ENSP00000520722.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 227,
"cds_start": 387,
"cds_end": null,
"cds_length": 684,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF125",
"gene_hgnc_id": 21150,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Leu129Leu",
"transcript": "NM_001436861.1",
"protein_id": "NP_001423790.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 191,
"cds_start": 387,
"cds_end": null,
"cds_length": 576,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF125",
"gene_hgnc_id": 21150,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Leu129Leu",
"transcript": "ENST00000718284.1",
"protein_id": "ENSP00000520723.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 191,
"cds_start": 387,
"cds_end": null,
"cds_length": 576,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF125",
"gene_hgnc_id": 21150,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Leu129Leu",
"transcript": "XM_011526046.4",
"protein_id": "XP_011524348.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 196,
"cds_start": 387,
"cds_end": null,
"cds_length": 591,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF125",
"gene_hgnc_id": 21150,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Leu129Leu",
"transcript": "XM_047437561.1",
"protein_id": "XP_047293517.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 139,
"cds_start": 387,
"cds_end": null,
"cds_length": 420,
"cdna_start": 426,
"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": "RNF125",
"gene_hgnc_id": 21150,
"hgvs_c": "n.169A>G",
"hgvs_p": null,
"transcript": "ENST00000580863.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 525,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000263917",
"gene_hgnc_id": null,
"hgvs_c": "n.422A>G",
"hgvs_p": null,
"transcript": "ENST00000583184.1",
"protein_id": null,
"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": 565,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF125",
"gene_hgnc_id": 21150,
"hgvs_c": "n.230A>G",
"hgvs_p": null,
"transcript": "ENST00000583384.5",
"protein_id": null,
"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": 647,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF125",
"gene_hgnc_id": 21150,
"hgvs_c": "n.342A>G",
"hgvs_p": null,
"transcript": "ENST00000583814.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNF125",
"gene_hgnc_id": 21150,
"hgvs_c": "n.85-3395A>G",
"hgvs_p": null,
"transcript": "ENST00000580209.1",
"protein_id": "ENSP00000463935.1",
"transcript_support_level": 3,
"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": 416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNF125",
"gene_hgnc_id": 21150,
"dbsnp": "rs144268137",
"frequency_reference_population": 0.0022727244,
"hom_count_reference_population": 14,
"allele_count_reference_population": 3666,
"gnomad_exomes_af": 0.00224342,
"gnomad_genomes_af": 0.0025537,
"gnomad_exomes_ac": 3277,
"gnomad_genomes_ac": 389,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.577,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000217740.4",
"gene_symbol": "RNF125",
"hgnc_id": 21150,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Leu129Leu"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000583184.1",
"gene_symbol": "ENSG00000263917",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.422A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Tenorio syndrome,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Tenorio syndrome|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}