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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: 20-37003806-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=37003806&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RBL1",
"hgnc_id": 9893,
"hgvs_c": "c.2932C>T",
"hgvs_p": "p.Arg978Cys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002895.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_score": -2,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": 0.4716,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8864171504974365,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5686,
"cdna_start": 3001,
"cds_end": null,
"cds_length": 3207,
"cds_start": 2932,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_002895.5",
"gene_hgnc_id": 9893,
"gene_symbol": "RBL1",
"hgvs_c": "c.2932C>T",
"hgvs_p": "p.Arg978Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373664.8",
"protein_coding": true,
"protein_id": "NP_002886.2",
"strand": false,
"transcript": "NM_002895.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5686,
"cdna_start": 3001,
"cds_end": null,
"cds_length": 3207,
"cds_start": 2932,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000373664.8",
"gene_hgnc_id": 9893,
"gene_symbol": "RBL1",
"hgvs_c": "c.2932C>T",
"hgvs_p": "p.Arg978Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002895.5",
"protein_coding": true,
"protein_id": "ENSP00000362768.3",
"strand": false,
"transcript": "ENST00000373664.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "R",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 2993,
"cds_end": null,
"cds_length": 3045,
"cds_start": 2932,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000344359.7",
"gene_hgnc_id": 9893,
"gene_symbol": "RBL1",
"hgvs_c": "c.2932C>T",
"hgvs_p": "p.Arg978Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343646.3",
"strand": false,
"transcript": "ENST00000344359.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "R",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 3001,
"cds_end": null,
"cds_length": 3045,
"cds_start": 2932,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_183404.4",
"gene_hgnc_id": 9893,
"gene_symbol": "RBL1",
"hgvs_c": "c.2932C>T",
"hgvs_p": "p.Arg978Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_899662.1",
"strand": false,
"transcript": "NM_183404.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 866,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 2397,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000927852.1",
"gene_hgnc_id": 9893,
"gene_symbol": "RBL1",
"hgvs_c": "c.2326C>T",
"hgvs_p": "p.Arg776Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597911.1",
"strand": false,
"transcript": "ENST00000927852.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 641,
"aa_ref": "R",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5759,
"cdna_start": 3074,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001323281.2",
"gene_hgnc_id": 9893,
"gene_symbol": "RBL1",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Arg551Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310210.1",
"strand": false,
"transcript": "NM_001323281.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 641,
"aa_ref": "R",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5824,
"cdna_start": 3139,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001323282.2",
"gene_hgnc_id": 9893,
"gene_symbol": "RBL1",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Arg551Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310211.1",
"strand": false,
"transcript": "NM_001323282.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 964,
"aa_ref": "R",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5469,
"cdna_start": 2784,
"cds_end": null,
"cds_length": 2895,
"cds_start": 2620,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047440349.1",
"gene_hgnc_id": 9893,
"gene_symbol": "RBL1",
"hgvs_c": "c.2620C>T",
"hgvs_p": "p.Arg874Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296305.1",
"strand": false,
"transcript": "XM_047440349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1013,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5515,
"cdna_start": null,
"cds_end": null,
"cds_length": 3042,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927851.1",
"gene_hgnc_id": 9893,
"gene_symbol": "RBL1",
"hgvs_c": "c.2871+3605C>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597910.1",
"strand": false,
"transcript": "ENST00000927851.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1013,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5521,
"cdna_start": null,
"cds_end": null,
"cds_length": 3042,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047440348.1",
"gene_hgnc_id": 9893,
"gene_symbol": "RBL1",
"hgvs_c": "c.2871+3605C>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296304.1",
"strand": false,
"transcript": "XM_047440348.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs780214428",
"effect": "missense_variant",
"frequency_reference_population": 0.000011773454,
"gene_hgnc_id": 9893,
"gene_symbol": "RBL1",
"gnomad_exomes_ac": 16,
"gnomad_exomes_af": 0.000010946,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.000019727,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.447,
"pos": 37003806,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.668,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_002895.5"
}
]
}