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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: 2-218073357-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218073357&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RUFY4",
"hgnc_id": 24804,
"hgvs_c": "c.501C>G",
"hgvs_p": "p.Asp167Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_198483.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 65,
"alphamissense_prediction": null,
"alphamissense_score": 0.4525,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "2",
"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": 0.34992265701293945,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 571,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1716,
"cds_start": 501,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_198483.4",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "c.501C>G",
"hgvs_p": "p.Asp167Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000697321.1",
"protein_coding": true,
"protein_id": "NP_940885.2",
"strand": true,
"transcript": "NM_198483.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 571,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1716,
"cds_start": 501,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000697321.1",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "c.501C>G",
"hgvs_p": "p.Asp167Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198483.4",
"protein_coding": true,
"protein_id": "ENSP00000513250.1",
"strand": true,
"transcript": "ENST00000697321.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 607,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1824,
"cds_start": 501,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000374155.7",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "c.501C>G",
"hgvs_p": "p.Asp167Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363270.3",
"strand": true,
"transcript": "ENST00000374155.7",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 571,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1716,
"cds_start": 501,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000344321.8",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "c.501C>G",
"hgvs_p": "p.Asp167Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345900.7",
"strand": true,
"transcript": "ENST00000344321.8",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2994,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1767,
"cds_start": 504,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047444006.1",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "c.504C>G",
"hgvs_p": "p.Asp168Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299962.1",
"strand": true,
"transcript": "XM_047444006.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 587,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2859,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1764,
"cds_start": 501,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047444007.1",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "c.501C>G",
"hgvs_p": "p.Asp167Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299963.1",
"strand": true,
"transcript": "XM_047444007.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 587,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 913,
"cds_end": null,
"cds_length": 1764,
"cds_start": 501,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047444008.1",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "c.501C>G",
"hgvs_p": "p.Asp167Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299964.1",
"strand": true,
"transcript": "XM_047444008.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 572,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1719,
"cds_start": 504,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017003895.2",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "c.504C>G",
"hgvs_p": "p.Asp168Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859384.1",
"strand": true,
"transcript": "XM_017003895.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 549,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3020,
"cdna_start": 784,
"cds_end": null,
"cds_length": 1650,
"cds_start": 504,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047444009.1",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "c.504C>G",
"hgvs_p": "p.Asp168Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299965.1",
"strand": true,
"transcript": "XM_047444009.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 539,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3063,
"cdna_start": 784,
"cds_end": null,
"cds_length": 1620,
"cds_start": 504,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047444010.1",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "c.504C>G",
"hgvs_p": "p.Asp168Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299966.1",
"strand": true,
"transcript": "XM_047444010.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 539,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3186,
"cdna_start": 784,
"cds_end": null,
"cds_length": 1620,
"cds_start": 504,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047444011.1",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "c.504C>G",
"hgvs_p": "p.Asp168Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299967.1",
"strand": true,
"transcript": "XM_047444011.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 538,
"aa_ref": "D",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1617,
"cds_start": 501,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047444012.1",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "c.501C>G",
"hgvs_p": "p.Asp167Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299968.1",
"strand": true,
"transcript": "XM_047444012.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3568,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000457754.6",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "n.394C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000410091.2",
"strand": true,
"transcript": "ENST00000457754.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 787,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000463872.1",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "n.130C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000463872.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3625,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_034176.2",
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"hgvs_c": "n.1880C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_034176.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs747485182",
"effect": "missense_variant",
"frequency_reference_population": 0.000045144596,
"gene_hgnc_id": 24804,
"gene_symbol": "RUFY4",
"gnomad_exomes_ac": 65,
"gnomad_exomes_af": 0.0000451446,
"gnomad_exomes_homalt": 0,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.294,
"pos": 218073357,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.502,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_198483.4"
}
]
}