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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: 2-218072878-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218072878&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218072878,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_198483.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Leu127Ile",
"transcript": "NM_198483.4",
"protein_id": "NP_940885.2",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 571,
"cds_start": 379,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000697321.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198483.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Leu127Ile",
"transcript": "ENST00000697321.1",
"protein_id": "ENSP00000513250.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 571,
"cds_start": 379,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198483.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697321.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Leu127Ile",
"transcript": "ENST00000374155.7",
"protein_id": "ENSP00000363270.3",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 607,
"cds_start": 379,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374155.7"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Leu127Ile",
"transcript": "ENST00000344321.8",
"protein_id": "ENSP00000345900.7",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 571,
"cds_start": 379,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344321.8"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Leu128Ile",
"transcript": "XM_047444006.1",
"protein_id": "XP_047299962.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 588,
"cds_start": 382,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444006.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Leu127Ile",
"transcript": "XM_047444007.1",
"protein_id": "XP_047299963.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 587,
"cds_start": 379,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444007.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Leu127Ile",
"transcript": "XM_047444008.1",
"protein_id": "XP_047299964.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 587,
"cds_start": 379,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444008.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Leu128Ile",
"transcript": "XM_017003895.2",
"protein_id": "XP_016859384.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 572,
"cds_start": 382,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003895.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Leu128Ile",
"transcript": "XM_047444009.1",
"protein_id": "XP_047299965.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 549,
"cds_start": 382,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444009.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Leu128Ile",
"transcript": "XM_047444010.1",
"protein_id": "XP_047299966.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 539,
"cds_start": 382,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444010.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Leu128Ile",
"transcript": "XM_047444011.1",
"protein_id": "XP_047299967.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 539,
"cds_start": 382,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444011.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Leu127Ile",
"transcript": "XM_047444012.1",
"protein_id": "XP_047299968.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 538,
"cds_start": 379,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444012.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "n.8C>A",
"hgvs_p": null,
"transcript": "ENST00000463872.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000463872.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "n.280-365C>A",
"hgvs_p": null,
"transcript": "ENST00000457754.6",
"protein_id": "ENSP00000410091.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000457754.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"hgvs_c": "n.1766-365C>A",
"hgvs_p": null,
"transcript": "NR_034176.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_034176.2"
}
],
"gene_symbol": "RUFY4",
"gene_hgnc_id": 24804,
"dbsnp": "rs781607906",
"frequency_reference_population": 7.2562096e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.25621e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13478875160217285,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.1017,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.041,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198483.4",
"gene_symbol": "RUFY4",
"hgnc_id": 24804,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Leu127Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}