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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: 20-17614754-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17614754&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RRBP1",
"hgnc_id": 10448,
"hgvs_c": "c.4177G>A",
"hgvs_p": "p.Glu1393Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001365613.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 536,
"alphamissense_prediction": null,
"alphamissense_score": 0.0938,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"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": "Benign",
"computational_score_selected": 0.22808581590652466,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "E",
"aa_start": 1393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 4490,
"cds_end": null,
"cds_length": 4233,
"cds_start": 4177,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001365613.2",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.4177G>A",
"hgvs_p": "p.Glu1393Lys",
"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": "K",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "E",
"aa_start": 1393,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 4490,
"cds_end": null,
"cds_length": 4233,
"cds_start": 4177,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000377813.6",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.4177G>A",
"hgvs_p": "p.Glu1393Lys",
"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": "K",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "E",
"aa_start": 1393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4737,
"cdna_start": 4177,
"cds_end": null,
"cds_length": 4233,
"cds_start": 4177,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000246043.8",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.4177G>A",
"hgvs_p": "p.Glu1393Lys",
"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": "K",
"aa_end": null,
"aa_length": 977,
"aa_ref": "E",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 3167,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2878,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000360807.8",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.2878G>A",
"hgvs_p": "p.Glu960Lys",
"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": "K",
"aa_end": null,
"aa_length": 751,
"aa_ref": "E",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000455029.3",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.2200G>A",
"hgvs_p": "p.Glu734Lys",
"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": "K",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "E",
"aa_start": 1391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5085,
"cdna_start": 4525,
"cds_end": null,
"cds_length": 4227,
"cds_start": 4171,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000923164.1",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.4171G>A",
"hgvs_p": "p.Glu1391Lys",
"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": "K",
"aa_end": null,
"aa_length": 1407,
"aa_ref": "E",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5042,
"cdna_start": 4484,
"cds_end": null,
"cds_length": 4224,
"cds_start": 4168,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000853412.1",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.4168G>A",
"hgvs_p": "p.Glu1390Lys",
"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": "K",
"aa_end": null,
"aa_length": 1400,
"aa_ref": "E",
"aa_start": 1383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4998,
"cdna_start": 4438,
"cds_end": null,
"cds_length": 4203,
"cds_start": 4147,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000853413.1",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.4147G>A",
"hgvs_p": "p.Glu1383Lys",
"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": "K",
"aa_end": null,
"aa_length": 1378,
"aa_ref": "E",
"aa_start": 1361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": 4425,
"cds_end": null,
"cds_length": 4137,
"cds_start": 4081,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000971286.1",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.4081G>A",
"hgvs_p": "p.Glu1361Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 977,
"aa_ref": "E",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3750,
"cdna_start": 3191,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2878,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001042576.2",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.2878G>A",
"hgvs_p": "p.Glu960Lys",
"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": "K",
"aa_end": null,
"aa_length": 977,
"aa_ref": "E",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3673,
"cdna_start": 3114,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2878,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_004587.3",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.2878G>A",
"hgvs_p": "p.Glu960Lys",
"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": "K",
"aa_end": null,
"aa_length": 977,
"aa_ref": "E",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3792,
"cdna_start": 3232,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2878,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000377807.6",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.2878G>A",
"hgvs_p": "p.Glu960Lys",
"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": "K",
"aa_end": null,
"aa_length": 346,
"aa_ref": "E",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 1041,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000470422.5",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Glu330Lys",
"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": 1399,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4989,
"cdna_start": null,
"cds_end": null,
"cds_length": 4200,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853414.1",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "c.4161+16G>A",
"hgvs_p": null,
"intron_rank": 24,
"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": 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": 5,
"exon_rank_end": null,
"feature": "ENST00000468428.1",
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"hgvs_c": "n.1640G>A",
"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": "rs201695665",
"effect": "missense_variant",
"frequency_reference_population": 0.00033234045,
"gene_hgnc_id": 10448,
"gene_symbol": "RRBP1",
"gnomad_exomes_ac": 514,
"gnomad_exomes_af": 0.000351917,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 22,
"gnomad_genomes_af": 0.000144516,
"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": "Uncertain_significance",
"phylop100way_score": 6.632,
"pos": 17614754,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.126,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_001365613.2"
}
]
}