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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: 13-48459733-TTCTG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=48459733&ref=TTCTG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 48459733,
"ref": "TTCTG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_000321.3",
"consequences": [
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.2011_2014delTCTG",
"hgvs_p": "p.Glu672fs",
"transcript": "NM_000321.3",
"protein_id": "NP_000312.2",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 928,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267163.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000321.3"
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.2011_2014delTCTG",
"hgvs_p": "p.Glu672fs",
"transcript": "ENST00000267163.6",
"protein_id": "ENSP00000267163.4",
"transcript_support_level": 1,
"aa_start": 671,
"aa_end": null,
"aa_length": 928,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000321.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267163.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "n.*1379_*1382delTCTG",
"hgvs_p": null,
"transcript": "ENST00000467505.6",
"protein_id": "ENSP00000434702.1",
"transcript_support_level": 1,
"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": "ENST00000467505.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "n.*1379_*1382delTCTG",
"hgvs_p": null,
"transcript": "ENST00000467505.6",
"protein_id": "ENSP00000434702.1",
"transcript_support_level": 1,
"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": "ENST00000467505.6"
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.2134_2137delTCTG",
"hgvs_p": "p.Glu713fs",
"transcript": "ENST00000924352.1",
"protein_id": "ENSP00000594411.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 969,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924352.1"
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.2011_2014delTCTG",
"hgvs_p": "p.Glu672fs",
"transcript": "ENST00000859511.1",
"protein_id": "ENSP00000529570.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 924,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859511.1"
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.2011_2014delTCTG",
"hgvs_p": "p.Glu672fs",
"transcript": "NM_001407165.1",
"protein_id": "NP_001394094.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 923,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407165.1"
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.2011_2014delTCTG",
"hgvs_p": "p.Glu672fs",
"transcript": "ENST00000650461.1",
"protein_id": "ENSP00000497193.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 923,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650461.1"
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.1993_1996delTCTG",
"hgvs_p": "p.Glu666fs",
"transcript": "ENST00000941076.1",
"protein_id": "ENSP00000611135.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 922,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941076.1"
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.2011_2014delTCTG",
"hgvs_p": "p.Glu672fs",
"transcript": "ENST00000713858.1",
"protein_id": "ENSP00000519163.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 893,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713858.1"
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.1894_1897delTCTG",
"hgvs_p": "p.Glu633fs",
"transcript": "ENST00000859510.1",
"protein_id": "ENSP00000529569.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 889,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859510.1"
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.2011_2014delTCTG",
"hgvs_p": "p.Glu672fs",
"transcript": "ENST00000713857.1",
"protein_id": "ENSP00000519162.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 877,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713857.1"
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.2011_2014delTCTG",
"hgvs_p": "p.Glu672fs",
"transcript": "ENST00000713856.1",
"protein_id": "ENSP00000519161.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 851,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "c.192+78295_192+78298delTCTG",
"hgvs_p": null,
"transcript": "ENST00000643064.1",
"protein_id": "ENSP00000496005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": null,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643064.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "n.*1085_*1088delTCTG",
"hgvs_p": null,
"transcript": "ENST00000713859.1",
"protein_id": "ENSP00000519164.1",
"transcript_support_level": null,
"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": "ENST00000713859.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"hgvs_c": "n.*1085_*1088delTCTG",
"hgvs_p": null,
"transcript": "ENST00000713859.1",
"protein_id": "ENSP00000519164.1",
"transcript_support_level": null,
"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": "ENST00000713859.1"
}
],
"gene_symbol": "RB1",
"gene_hgnc_id": 9884,
"dbsnp": "rs1131690885",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000321.3",
"gene_symbol": "RB1",
"hgnc_id": 9884,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2011_2014delTCTG",
"hgvs_p": "p.Glu672fs"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}