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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: 20-17619711-CGA-TAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17619711&ref=CGA&alt=TAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RRBP1",
"hgnc_id": 10448,
"hgvs_c": "c.3595_3597delTCGinsCTA",
"hgvs_p": "p.Ser1199Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001365613.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "S",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 3910,
"cds_end": null,
"cds_length": 4233,
"cds_start": 3595,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365613.2",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.3595_3597delTCGinsCTA",
"hgvs_p": "p.Ser1199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377813.6",
"protein_coding": true,
"protein_id": "NP_001352542.1",
"strand": false,
"transcript": "NM_001365613.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "S",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 3910,
"cds_end": null,
"cds_length": 4233,
"cds_start": 3595,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377813.6",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.3595_3597delTCGinsCTA",
"hgvs_p": "p.Ser1199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001365613.2",
"protein_coding": true,
"protein_id": "ENSP00000367044.1",
"strand": false,
"transcript": "ENST00000377813.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "S",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4737,
"cdna_start": 3597,
"cds_end": null,
"cds_length": 4233,
"cds_start": 3595,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000246043.8",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.3595_3597delTCGinsCTA",
"hgvs_p": "p.Ser1199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000246043.4",
"strand": false,
"transcript": "ENST00000246043.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 977,
"aa_ref": "S",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 2587,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2296,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360807.8",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.2296_2298delTCGinsCTA",
"hgvs_p": "p.Ser766Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354045.4",
"strand": false,
"transcript": "ENST00000360807.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 751,
"aa_ref": "S",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455029.3",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.1618_1620delTCGinsCTA",
"hgvs_p": "p.Ser540Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401206.2",
"strand": false,
"transcript": "ENST00000455029.3",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "S",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5085,
"cdna_start": 3951,
"cds_end": null,
"cds_length": 4227,
"cds_start": 3595,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923164.1",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.3595_3597delTCGinsCTA",
"hgvs_p": "p.Ser1199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593223.1",
"strand": false,
"transcript": "ENST00000923164.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1407,
"aa_ref": "S",
"aa_start": 1196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5042,
"cdna_start": 3904,
"cds_end": null,
"cds_length": 4224,
"cds_start": 3586,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853412.1",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.3586_3588delTCGinsCTA",
"hgvs_p": "p.Ser1196Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523471.1",
"strand": false,
"transcript": "ENST00000853412.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1400,
"aa_ref": "S",
"aa_start": 1189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4998,
"cdna_start": 3858,
"cds_end": null,
"cds_length": 4203,
"cds_start": 3565,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853413.1",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.3565_3567delTCGinsCTA",
"hgvs_p": "p.Ser1189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523472.1",
"strand": false,
"transcript": "ENST00000853413.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1399,
"aa_ref": "S",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4989,
"cdna_start": 3882,
"cds_end": null,
"cds_length": 4200,
"cds_start": 3595,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853414.1",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.3595_3597delTCGinsCTA",
"hgvs_p": "p.Ser1199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523473.1",
"strand": false,
"transcript": "ENST00000853414.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 977,
"aa_ref": "S",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3750,
"cdna_start": 2611,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2296,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001042576.2",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.2296_2298delTCGinsCTA",
"hgvs_p": "p.Ser766Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036041.2",
"strand": false,
"transcript": "NM_001042576.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 977,
"aa_ref": "S",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3673,
"cdna_start": 2534,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2296,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004587.3",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.2296_2298delTCGinsCTA",
"hgvs_p": "p.Ser766Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004578.3",
"strand": false,
"transcript": "NM_004587.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 977,
"aa_ref": "S",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3792,
"cdna_start": 2652,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2296,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377807.6",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.2296_2298delTCGinsCTA",
"hgvs_p": "p.Ser766Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367038.2",
"strand": false,
"transcript": "ENST00000377807.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 346,
"aa_ref": "S",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1041,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000470422.5",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.406_408delTCGinsCTA",
"hgvs_p": "p.Ser136Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478324.1",
"strand": false,
"transcript": "ENST00000470422.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": null,
"cds_end": null,
"cds_length": 4137,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971286.1",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.3579+586_3579+588delTCGinsCTA",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641345.1",
"strand": false,
"transcript": "ENST00000971286.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000468428.1",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "n.105_107delTCGinsCTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000468428.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.579,
"pos": 17619711,
"ref": "CGA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001365613.2"
}
]
}