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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: X-71555223-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71555223&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71555223,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000373719.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "c.762G>C",
"hgvs_p": "p.Leu254Phe",
"transcript": "NM_181672.3",
"protein_id": "NP_858058.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 1046,
"cds_start": 762,
"cds_end": null,
"cds_length": 3141,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 5435,
"mane_select": "ENST00000373719.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "c.762G>C",
"hgvs_p": "p.Leu254Phe",
"transcript": "ENST00000373719.8",
"protein_id": "ENSP00000362824.3",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 1046,
"cds_start": 762,
"cds_end": null,
"cds_length": 3141,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 5435,
"mane_select": "NM_181672.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "c.732G>C",
"hgvs_p": "p.Leu244Phe",
"transcript": "ENST00000373701.7",
"protein_id": "ENSP00000362805.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 1036,
"cds_start": 732,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "c.732G>C",
"hgvs_p": "p.Leu244Phe",
"transcript": "NM_181673.3",
"protein_id": "NP_858059.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 1036,
"cds_start": 732,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 5405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "c.693G>C",
"hgvs_p": "p.Leu231Phe",
"transcript": "ENST00000699749.1",
"protein_id": "ENSP00000514559.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 1023,
"cds_start": 693,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "c.663G>C",
"hgvs_p": "p.Leu221Phe",
"transcript": "ENST00000699782.1",
"protein_id": "ENSP00000514588.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1013,
"cds_start": 663,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 5256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "c.732G>C",
"hgvs_p": "p.Leu244Phe",
"transcript": "ENST00000699784.1",
"protein_id": "ENSP00000514590.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 997,
"cds_start": 732,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 5253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "c.732G>C",
"hgvs_p": "p.Leu244Phe",
"transcript": "ENST00000699783.1",
"protein_id": "ENSP00000514589.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 994,
"cds_start": 732,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 4105,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "n.139G>C",
"hgvs_p": null,
"transcript": "ENST00000459760.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 541,
"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": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "n.*621G>C",
"hgvs_p": null,
"transcript": "ENST00000699750.1",
"protein_id": "ENSP00000514560.1",
"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": 5763,
"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": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "n.*3630G>C",
"hgvs_p": null,
"transcript": "ENST00000699779.1",
"protein_id": "ENSP00000514585.1",
"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": 8385,
"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": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "n.*767G>C",
"hgvs_p": null,
"transcript": "ENST00000699785.1",
"protein_id": "ENSP00000514591.1",
"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": 5969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "n.*621G>C",
"hgvs_p": null,
"transcript": "ENST00000699750.1",
"protein_id": "ENSP00000514560.1",
"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": 5763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "n.*3630G>C",
"hgvs_p": null,
"transcript": "ENST00000699779.1",
"protein_id": "ENSP00000514585.1",
"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": 8385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "n.*767G>C",
"hgvs_p": null,
"transcript": "ENST00000699785.1",
"protein_id": "ENSP00000514591.1",
"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": 5969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "n.4165+631G>C",
"hgvs_p": null,
"transcript": "ENST00000488174.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 7243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "n.1278+631G>C",
"hgvs_p": null,
"transcript": "ENST00000699751.1",
"protein_id": null,
"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": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "n.728+631G>C",
"hgvs_p": null,
"transcript": "ENST00000699780.1",
"protein_id": "ENSP00000514586.1",
"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": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "n.*332+631G>C",
"hgvs_p": null,
"transcript": "ENST00000699781.1",
"protein_id": "ENSP00000514587.1",
"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": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"hgvs_c": "n.*9G>C",
"hgvs_p": null,
"transcript": "ENST00000455587.3",
"protein_id": null,
"transcript_support_level": 3,
"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": 632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OGT",
"gene_hgnc_id": 8127,
"dbsnp": "rs1131692155",
"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": 0.8613494634628296,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.621,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7446,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.702,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1,PM2,PP2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PS1",
"PM2",
"PP2",
"PP3_Moderate",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000373719.8",
"gene_symbol": "OGT",
"hgnc_id": 8127,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.762G>C",
"hgvs_p": "p.Leu254Phe"
}
],
"clinvar_disease": " X-linked 106,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, X-linked 106",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}