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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: 2-108765991-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=108765991&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 108765991,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000283195.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.5452C>T",
"hgvs_p": "p.Pro1818Ser",
"transcript": "NM_006267.5",
"protein_id": "NP_006258.3",
"transcript_support_level": null,
"aa_start": 1818,
"aa_end": null,
"aa_length": 3224,
"cds_start": 5452,
"cds_end": null,
"cds_length": 9675,
"cdna_start": 5577,
"cdna_end": null,
"cdna_length": 11708,
"mane_select": "ENST00000283195.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.5452C>T",
"hgvs_p": "p.Pro1818Ser",
"transcript": "ENST00000283195.11",
"protein_id": "ENSP00000283195.6",
"transcript_support_level": 1,
"aa_start": 1818,
"aa_end": null,
"aa_length": 3224,
"cds_start": 5452,
"cds_end": null,
"cds_length": 9675,
"cdna_start": 5577,
"cdna_end": null,
"cdna_length": 11708,
"mane_select": "NM_006267.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.5452C>T",
"hgvs_p": "p.Pro1818Ser",
"transcript": "NM_001415871.1",
"protein_id": "NP_001402800.1",
"transcript_support_level": null,
"aa_start": 1818,
"aa_end": null,
"aa_length": 3250,
"cds_start": 5452,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 5577,
"cdna_end": null,
"cdna_length": 11786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.5452C>T",
"hgvs_p": "p.Pro1818Ser",
"transcript": "NM_001415873.1",
"protein_id": "NP_001402802.1",
"transcript_support_level": null,
"aa_start": 1818,
"aa_end": null,
"aa_length": 3232,
"cds_start": 5452,
"cds_end": null,
"cds_length": 9699,
"cdna_start": 5577,
"cdna_end": null,
"cdna_length": 11732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.5449C>T",
"hgvs_p": "p.Pro1817Ser",
"transcript": "NM_001415872.1",
"protein_id": "NP_001402801.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 3223,
"cds_start": 5449,
"cds_end": null,
"cds_length": 9672,
"cdna_start": 5574,
"cdna_end": null,
"cdna_length": 11705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "ENST00000697745.1",
"protein_id": "ENSP00000513429.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1520,
"cds_start": 316,
"cds_end": null,
"cds_length": 4563,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 6465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.5452C>T",
"hgvs_p": "p.Pro1818Ser",
"transcript": "XM_005264002.4",
"protein_id": "XP_005264059.1",
"transcript_support_level": null,
"aa_start": 1818,
"aa_end": null,
"aa_length": 3258,
"cds_start": 5452,
"cds_end": null,
"cds_length": 9777,
"cdna_start": 5577,
"cdna_end": null,
"cdna_length": 11810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.5449C>T",
"hgvs_p": "p.Pro1817Ser",
"transcript": "XM_011511575.3",
"protein_id": "XP_011509877.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 3257,
"cds_start": 5449,
"cds_end": null,
"cds_length": 9774,
"cdna_start": 5574,
"cdna_end": null,
"cdna_length": 11807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.5275C>T",
"hgvs_p": "p.Pro1759Ser",
"transcript": "XM_011511576.4",
"protein_id": "XP_011509878.1",
"transcript_support_level": null,
"aa_start": 1759,
"aa_end": null,
"aa_length": 3199,
"cds_start": 5275,
"cds_end": null,
"cds_length": 9600,
"cdna_start": 5400,
"cdna_end": null,
"cdna_length": 11633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.5452C>T",
"hgvs_p": "p.Pro1818Ser",
"transcript": "XM_047445367.1",
"protein_id": "XP_047301323.1",
"transcript_support_level": null,
"aa_start": 1818,
"aa_end": null,
"aa_length": 2807,
"cds_start": 5452,
"cds_end": null,
"cds_length": 8424,
"cdna_start": 5577,
"cdna_end": null,
"cdna_length": 9393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "n.316C>T",
"hgvs_p": null,
"transcript": "ENST00000697744.1",
"protein_id": "ENSP00000513428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.*2732C>T",
"hgvs_p": null,
"transcript": "XM_017004624.3",
"protein_id": "XP_016860113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 874,
"cds_start": -4,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.2603-5710C>T",
"hgvs_p": null,
"transcript": "ENST00000697737.1",
"protein_id": "ENSP00000513426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1475,
"cds_start": -4,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.2525-5710C>T",
"hgvs_p": null,
"transcript": "ENST00000697740.1",
"protein_id": "ENSP00000513427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1449,
"cds_start": -4,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.2698-174C>T",
"hgvs_p": null,
"transcript": "XM_005264007.4",
"protein_id": "XP_005264064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2282,
"cds_start": -4,
"cds_end": null,
"cds_length": 6849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.2695-174C>T",
"hgvs_p": null,
"transcript": "XM_011511578.3",
"protein_id": "XP_011509880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2281,
"cds_start": -4,
"cds_end": null,
"cds_length": 6846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"dbsnp": "rs1291246599",
"frequency_reference_population": 0.0000065698705,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656987,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07566249370574951,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.0786,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.315,
"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": "ENST00000283195.11",
"gene_symbol": "RANBP2",
"hgnc_id": 9848,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5452C>T",
"hgvs_p": "p.Pro1818Ser"
}
],
"clinvar_disease": "Familial acute necrotizing encephalopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Familial acute necrotizing encephalopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}