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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: 2-108764000-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=108764000&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 108764000,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001415871.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"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.3461A>T",
"hgvs_p": "p.His1154Leu",
"transcript": "NM_006267.5",
"protein_id": "NP_006258.3",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 3224,
"cds_start": 3461,
"cds_end": null,
"cds_length": 9675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283195.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006267.5"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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.3461A>T",
"hgvs_p": "p.His1154Leu",
"transcript": "ENST00000283195.11",
"protein_id": "ENSP00000283195.6",
"transcript_support_level": 1,
"aa_start": 1154,
"aa_end": null,
"aa_length": 3224,
"cds_start": 3461,
"cds_end": null,
"cds_length": 9675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006267.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283195.11"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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.3461A>T",
"hgvs_p": "p.His1154Leu",
"transcript": "NM_001415871.1",
"protein_id": "NP_001402800.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 3250,
"cds_start": 3461,
"cds_end": null,
"cds_length": 9753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001415871.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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.3461A>T",
"hgvs_p": "p.His1154Leu",
"transcript": "NM_001415873.1",
"protein_id": "NP_001402802.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 3232,
"cds_start": 3461,
"cds_end": null,
"cds_length": 9699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001415873.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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.3458A>T",
"hgvs_p": "p.His1153Leu",
"transcript": "NM_001415872.1",
"protein_id": "NP_001402801.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 3223,
"cds_start": 3458,
"cds_end": null,
"cds_length": 9672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001415872.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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.3458A>T",
"hgvs_p": "p.His1153Leu",
"transcript": "ENST00000917983.1",
"protein_id": "ENSP00000588042.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 3223,
"cds_start": 3458,
"cds_end": null,
"cds_length": 9672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917983.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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.3461A>T",
"hgvs_p": "p.His1154Leu",
"transcript": "XM_005264002.4",
"protein_id": "XP_005264059.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 3258,
"cds_start": 3461,
"cds_end": null,
"cds_length": 9777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264002.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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.3458A>T",
"hgvs_p": "p.His1153Leu",
"transcript": "XM_011511575.3",
"protein_id": "XP_011509877.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 3257,
"cds_start": 3458,
"cds_end": null,
"cds_length": 9774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511575.3"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.3461A>T",
"hgvs_p": "p.His1154Leu",
"transcript": "XM_011511576.4",
"protein_id": "XP_011509878.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 3199,
"cds_start": 3461,
"cds_end": null,
"cds_length": 9600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511576.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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.3461A>T",
"hgvs_p": "p.His1154Leu",
"transcript": "XM_047445367.1",
"protein_id": "XP_047301323.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 2807,
"cds_start": 3461,
"cds_end": null,
"cds_length": 8424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445367.1"
},
{
"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.*741A>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": null,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004624.3"
},
{
"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": 28,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.2603-5260A>T",
"hgvs_p": null,
"transcript": "ENST00000960086.1",
"protein_id": "ENSP00000630145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1501,
"cds_start": null,
"cds_end": null,
"cds_length": 4506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960086.1"
},
{
"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.2602+5452A>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": null,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697737.1"
},
{
"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.2602+5452A>T",
"hgvs_p": null,
"transcript": "ENST00000960085.1",
"protein_id": "ENSP00000630144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1473,
"cds_start": null,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960085.1"
},
{
"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.2524+5452A>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": null,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697740.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.73-19596A>T",
"hgvs_p": null,
"transcript": "ENST00000917984.1",
"protein_id": "ENSP00000588043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917984.1"
},
{
"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.2697+1805A>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": null,
"cds_end": null,
"cds_length": 6849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264007.4"
},
{
"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.2694+1805A>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": null,
"cds_end": null,
"cds_length": 6846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511578.3"
}
],
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"dbsnp": "rs77443930",
"frequency_reference_population": 0.00043372012,
"hom_count_reference_population": 7,
"allele_count_reference_population": 700,
"gnomad_exomes_af": 0.000215508,
"gnomad_genomes_af": 0.0025282,
"gnomad_exomes_ac": 315,
"gnomad_genomes_ac": 385,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006900131702423096,
"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": 0.0789,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.093,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001415871.1",
"gene_symbol": "RANBP2",
"hgnc_id": 9848,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3461A>T",
"hgvs_p": "p.His1154Leu"
}
],
"clinvar_disease": "Familial acute necrotizing encephalopathy,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Familial acute necrotizing encephalopathy|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}