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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: 1-149944228-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=149944228&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 149944228,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020205.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2161G>C",
"hgvs_p": "p.Val721Leu",
"transcript": "NM_020205.4",
"protein_id": "NP_064590.2",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 843,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000581312.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020205.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2161G>C",
"hgvs_p": "p.Val721Leu",
"transcript": "ENST00000581312.6",
"protein_id": "ENSP00000462729.1",
"transcript_support_level": 1,
"aa_start": 721,
"aa_end": null,
"aa_length": 843,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020205.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581312.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Val730Leu",
"transcript": "ENST00000907908.1",
"protein_id": "ENSP00000577967.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 852,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907908.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2161G>C",
"hgvs_p": "p.Val721Leu",
"transcript": "ENST00000907909.1",
"protein_id": "ENSP00000577968.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 843,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907909.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2161G>C",
"hgvs_p": "p.Val721Leu",
"transcript": "ENST00000907910.1",
"protein_id": "ENSP00000577969.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 843,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907910.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2161G>C",
"hgvs_p": "p.Val721Leu",
"transcript": "ENST00000907911.1",
"protein_id": "ENSP00000577970.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 843,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907911.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2161G>C",
"hgvs_p": "p.Val721Leu",
"transcript": "ENST00000907913.1",
"protein_id": "ENSP00000577972.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 843,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907913.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2086G>C",
"hgvs_p": "p.Val696Leu",
"transcript": "ENST00000907912.1",
"protein_id": "ENSP00000577971.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 818,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907912.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Val730Leu",
"transcript": "XM_011509782.2",
"protein_id": "XP_011508084.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 852,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509782.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Val730Leu",
"transcript": "XM_011509784.4",
"protein_id": "XP_011508086.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 852,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509784.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Val730Leu",
"transcript": "XM_011509785.3",
"protein_id": "XP_011508087.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 852,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509785.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Val730Leu",
"transcript": "XM_047425712.1",
"protein_id": "XP_047281668.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 852,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425712.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Val730Leu",
"transcript": "XM_047425715.1",
"protein_id": "XP_047281671.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 852,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425715.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Val730Leu",
"transcript": "XM_047425716.1",
"protein_id": "XP_047281672.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 852,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425716.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2161G>C",
"hgvs_p": "p.Val721Leu",
"transcript": "XM_047425717.1",
"protein_id": "XP_047281673.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 843,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425717.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2161G>C",
"hgvs_p": "p.Val721Leu",
"transcript": "XM_047425720.1",
"protein_id": "XP_047281676.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 843,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425720.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.2161G>C",
"hgvs_p": "p.Val721Leu",
"transcript": "XM_047425721.1",
"protein_id": "XP_047281677.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 843,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425721.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.1951G>C",
"hgvs_p": "p.Val651Leu",
"transcript": "XM_011509788.3",
"protein_id": "XP_011508090.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 773,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509788.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"hgvs_c": "c.1924G>C",
"hgvs_p": "p.Val642Leu",
"transcript": "XM_017001850.2",
"protein_id": "XP_016857339.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 764,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001850.2"
}
],
"gene_symbol": "OTUD7B",
"gene_hgnc_id": 16683,
"dbsnp": "rs368495159",
"frequency_reference_population": 0.000042784966,
"hom_count_reference_population": 0,
"allele_count_reference_population": 69,
"gnomad_exomes_af": 0.0000465572,
"gnomad_genomes_af": 0.00000657255,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04994305968284607,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.0717,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.777,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_020205.4",
"gene_symbol": "OTUD7B",
"hgnc_id": 16683,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2161G>C",
"hgvs_p": "p.Val721Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}