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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: 20-17615528-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17615528&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 17615528,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001365613.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.3953C>G",
"hgvs_p": "p.Ala1318Gly",
"transcript": "NM_001365613.2",
"protein_id": "NP_001352542.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3953,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377813.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365613.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.3953C>G",
"hgvs_p": "p.Ala1318Gly",
"transcript": "ENST00000377813.6",
"protein_id": "ENSP00000367044.1",
"transcript_support_level": 1,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3953,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365613.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377813.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.3953C>G",
"hgvs_p": "p.Ala1318Gly",
"transcript": "ENST00000246043.8",
"protein_id": "ENSP00000246043.4",
"transcript_support_level": 1,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3953,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246043.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.2654C>G",
"hgvs_p": "p.Ala885Gly",
"transcript": "ENST00000360807.8",
"protein_id": "ENSP00000354045.4",
"transcript_support_level": 1,
"aa_start": 885,
"aa_end": null,
"aa_length": 977,
"cds_start": 2654,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360807.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.1976C>G",
"hgvs_p": "p.Ala659Gly",
"transcript": "ENST00000455029.3",
"protein_id": "ENSP00000401206.2",
"transcript_support_level": 1,
"aa_start": 659,
"aa_end": null,
"aa_length": 751,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455029.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.3944C>G",
"hgvs_p": "p.Ala1315Gly",
"transcript": "ENST00000853412.1",
"protein_id": "ENSP00000523471.1",
"transcript_support_level": null,
"aa_start": 1315,
"aa_end": null,
"aa_length": 1407,
"cds_start": 3944,
"cds_end": null,
"cds_length": 4224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853412.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.3923C>G",
"hgvs_p": "p.Ala1308Gly",
"transcript": "ENST00000853413.1",
"protein_id": "ENSP00000523472.1",
"transcript_support_level": null,
"aa_start": 1308,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3923,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853413.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.3953C>G",
"hgvs_p": "p.Ala1318Gly",
"transcript": "ENST00000853414.1",
"protein_id": "ENSP00000523473.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3953,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853414.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.3857C>G",
"hgvs_p": "p.Ala1286Gly",
"transcript": "ENST00000971286.1",
"protein_id": "ENSP00000641345.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1378,
"cds_start": 3857,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971286.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.2654C>G",
"hgvs_p": "p.Ala885Gly",
"transcript": "NM_001042576.2",
"protein_id": "NP_001036041.2",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 977,
"cds_start": 2654,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042576.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.2654C>G",
"hgvs_p": "p.Ala885Gly",
"transcript": "NM_004587.3",
"protein_id": "NP_004578.3",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 977,
"cds_start": 2654,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004587.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.2654C>G",
"hgvs_p": "p.Ala885Gly",
"transcript": "ENST00000377807.6",
"protein_id": "ENSP00000367038.2",
"transcript_support_level": 5,
"aa_start": 885,
"aa_end": null,
"aa_length": 977,
"cds_start": 2654,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377807.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.764C>G",
"hgvs_p": "p.Ala255Gly",
"transcript": "ENST00000470422.5",
"protein_id": "ENSP00000478324.1",
"transcript_support_level": 2,
"aa_start": 255,
"aa_end": null,
"aa_length": 346,
"cds_start": 764,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470422.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "c.3952-5C>G",
"hgvs_p": null,
"transcript": "ENST00000923164.1",
"protein_id": "ENSP00000593223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1408,
"cds_start": null,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923164.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"hgvs_c": "n.1416C>G",
"hgvs_p": null,
"transcript": "ENST00000468428.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000468428.1"
}
],
"gene_symbol": "RRBP1",
"gene_hgnc_id": 10448,
"dbsnp": "rs1801964",
"frequency_reference_population": 0.0000062360623,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000620167,
"gnomad_genomes_af": 0.00000656366,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14582833647727966,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.1706,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.532,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0169388661075273,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001365613.2",
"gene_symbol": "RRBP1",
"hgnc_id": 10448,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3953C>G",
"hgvs_p": "p.Ala1318Gly"
}
],
"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
}