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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: 20-37020730-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=37020730&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 37020730,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002895.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL1",
"gene_hgnc_id": 9893,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Ile",
"transcript": "NM_002895.5",
"protein_id": "NP_002886.2",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2560,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373664.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002895.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL1",
"gene_hgnc_id": 9893,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Ile",
"transcript": "ENST00000373664.8",
"protein_id": "ENSP00000362768.3",
"transcript_support_level": 1,
"aa_start": 854,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2560,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002895.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373664.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL1",
"gene_hgnc_id": 9893,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Ile",
"transcript": "ENST00000344359.7",
"protein_id": "ENSP00000343646.3",
"transcript_support_level": 1,
"aa_start": 854,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2560,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344359.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL1",
"gene_hgnc_id": 9893,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Ile",
"transcript": "NM_183404.4",
"protein_id": "NP_899662.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2560,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183404.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL1",
"gene_hgnc_id": 9893,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Ile",
"transcript": "ENST00000927851.1",
"protein_id": "ENSP00000597910.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2560,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927851.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL1",
"gene_hgnc_id": 9893,
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Val652Ile",
"transcript": "ENST00000927852.1",
"protein_id": "ENSP00000597911.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 866,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927852.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL1",
"gene_hgnc_id": 9893,
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Val427Ile",
"transcript": "NM_001323281.2",
"protein_id": "NP_001310210.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 641,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323281.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL1",
"gene_hgnc_id": 9893,
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Val427Ile",
"transcript": "NM_001323282.2",
"protein_id": "NP_001310211.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 641,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323282.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL1",
"gene_hgnc_id": 9893,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Ile",
"transcript": "XM_047440348.1",
"protein_id": "XP_047296304.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2560,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440348.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBL1",
"gene_hgnc_id": 9893,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Val750Ile",
"transcript": "XM_047440349.1",
"protein_id": "XP_047296305.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 964,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440349.1"
}
],
"gene_symbol": "RBL1",
"gene_hgnc_id": 9893,
"dbsnp": "rs138577744",
"frequency_reference_population": 0.00011600556,
"hom_count_reference_population": 0,
"allele_count_reference_population": 181,
"gnomad_exomes_af": 0.000122843,
"gnomad_genomes_af": 0.0000526413,
"gnomad_exomes_ac": 173,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2322237491607666,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5960000157356262,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.296,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1719,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.607,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.772063428332112,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002895.5",
"gene_symbol": "RBL1",
"hgnc_id": 9893,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Ile"
}
],
"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
}