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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: 1-205100045-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205100045&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 205100045,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005057.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly",
"transcript": "NM_005057.4",
"protein_id": "NP_005048.2",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 538,
"cds_start": 772,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": "ENST00000264515.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005057.4"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly",
"transcript": "ENST00000264515.11",
"protein_id": "ENSP00000264515.6",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 538,
"cds_start": 772,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": "NM_005057.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264515.11"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly",
"transcript": "ENST00000367164.1",
"protein_id": "ENSP00000356132.1",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 500,
"cds_start": 772,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367164.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly",
"transcript": "ENST00000861178.1",
"protein_id": "ENSP00000531237.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 537,
"cds_start": 772,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861178.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.721T>G",
"hgvs_p": "p.Cys241Gly",
"transcript": "ENST00000861177.1",
"protein_id": "ENSP00000531236.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 521,
"cds_start": 721,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 4249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861177.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.721T>G",
"hgvs_p": "p.Cys241Gly",
"transcript": "ENST00000955070.1",
"protein_id": "ENSP00000625129.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 521,
"cds_start": 721,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955070.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly",
"transcript": "NM_001193272.2",
"protein_id": "NP_001180201.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 500,
"cds_start": 772,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193272.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly",
"transcript": "ENST00000861180.1",
"protein_id": "ENSP00000531239.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 499,
"cds_start": 772,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861180.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly",
"transcript": "ENST00000912403.1",
"protein_id": "ENSP00000582462.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 499,
"cds_start": 772,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912403.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly",
"transcript": "ENST00000861179.1",
"protein_id": "ENSP00000531238.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 474,
"cds_start": 772,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861179.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly",
"transcript": "ENST00000912404.1",
"protein_id": "ENSP00000582463.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 440,
"cds_start": 772,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912404.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.391T>G",
"hgvs_p": "p.Cys131Gly",
"transcript": "NM_001193273.2",
"protein_id": "NP_001180202.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 410,
"cds_start": 391,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193273.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.877T>G",
"hgvs_p": "p.Cys293Gly",
"transcript": "XM_047426894.1",
"protein_id": "XP_047282850.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 573,
"cds_start": 877,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426894.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly",
"transcript": "XM_011509833.4",
"protein_id": "XP_011508135.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 537,
"cds_start": 772,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509833.4"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.697T>G",
"hgvs_p": "p.Cys233Gly",
"transcript": "XM_047426902.1",
"protein_id": "XP_047282858.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 513,
"cds_start": 697,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426902.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly",
"transcript": "XM_047426905.1",
"protein_id": "XP_047282861.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 499,
"cds_start": 772,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 4250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426905.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.391T>G",
"hgvs_p": "p.Cys131Gly",
"transcript": "XM_047426907.1",
"protein_id": "XP_047282863.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 411,
"cds_start": 391,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426907.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly",
"transcript": "XM_047426908.1",
"protein_id": "XP_047282864.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 409,
"cds_start": 772,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426908.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "XM_047426912.1",
"protein_id": "XP_047282868.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 297,
"cds_start": 49,
"cds_end": null,
"cds_length": 894,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"hgvs_c": "c.20-11233T>G",
"hgvs_p": null,
"transcript": "ENST00000861181.1",
"protein_id": "ENSP00000531240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 14,
"cds_start": null,
"cds_end": null,
"cds_length": 45,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861181.1"
}
],
"gene_symbol": "RBBP5",
"gene_hgnc_id": 9888,
"dbsnp": null,
"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": 0.8588841557502747,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.494,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5903,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.185,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005057.4",
"gene_symbol": "RBBP5",
"hgnc_id": 9888,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.772T>G",
"hgvs_p": "p.Cys258Gly"
}
],
"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
}