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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: 1-149944291-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=149944291&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "OTUD7B",
"hgnc_id": 16683,
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Trp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_020205.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 30,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1981,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25090229511260986,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 843,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8922,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_020205.4",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000581312.6",
"protein_coding": true,
"protein_id": "NP_064590.2",
"strand": false,
"transcript": "NM_020205.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 843,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8922,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000581312.6",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020205.4",
"protein_coding": true,
"protein_id": "ENSP00000462729.1",
"strand": false,
"transcript": "ENST00000581312.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 852,
"aa_ref": "R",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5474,
"cdna_start": 2452,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000907908.1",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2125C>T",
"hgvs_p": "p.Arg709Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577967.1",
"strand": false,
"transcript": "ENST00000907908.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 843,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5126,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000907909.1",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577968.1",
"strand": false,
"transcript": "ENST00000907909.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 843,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4779,
"cdna_start": 2501,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000907910.1",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577969.1",
"strand": false,
"transcript": "ENST00000907910.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 843,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000907911.1",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577970.1",
"strand": false,
"transcript": "ENST00000907911.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 843,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 2399,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000907913.1",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577972.1",
"strand": false,
"transcript": "ENST00000907913.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 818,
"aa_ref": "R",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3247,
"cdna_start": 2392,
"cds_end": null,
"cds_length": 2457,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000907912.1",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2023C>T",
"hgvs_p": "p.Arg675Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577971.1",
"strand": false,
"transcript": "ENST00000907912.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 852,
"aa_ref": "R",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8949,
"cdna_start": 2470,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011509782.2",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2125C>T",
"hgvs_p": "p.Arg709Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508084.1",
"strand": false,
"transcript": "XM_011509782.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 852,
"aa_ref": "R",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8711,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011509784.4",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2125C>T",
"hgvs_p": "p.Arg709Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508086.1",
"strand": false,
"transcript": "XM_011509784.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 852,
"aa_ref": "R",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12494,
"cdna_start": 6015,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011509785.3",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2125C>T",
"hgvs_p": "p.Arg709Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508087.1",
"strand": false,
"transcript": "XM_011509785.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 852,
"aa_ref": "R",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9366,
"cdna_start": 2887,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047425712.1",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2125C>T",
"hgvs_p": "p.Arg709Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281668.1",
"strand": false,
"transcript": "XM_047425712.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 852,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9078,
"cdna_start": 2599,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047425715.1",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2125C>T",
"hgvs_p": "p.Arg709Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281671.1",
"strand": false,
"transcript": "XM_047425715.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 852,
"aa_ref": "R",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8841,
"cdna_start": 2362,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047425716.1",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2125C>T",
"hgvs_p": "p.Arg709Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281672.1",
"strand": false,
"transcript": "XM_047425716.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 843,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12467,
"cdna_start": 5988,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047425717.1",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281673.1",
"strand": false,
"transcript": "XM_047425717.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 843,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8684,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047425720.1",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281676.1",
"strand": false,
"transcript": "XM_047425720.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 843,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8814,
"cdna_start": 2335,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047425721.1",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281677.1",
"strand": false,
"transcript": "XM_047425721.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 773,
"aa_ref": "R",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8385,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1888,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011509788.3",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.1888C>T",
"hgvs_p": "p.Arg630Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508090.1",
"strand": false,
"transcript": "XM_011509788.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 764,
"aa_ref": "R",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8358,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1861,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017001850.2",
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"hgvs_c": "c.1861C>T",
"hgvs_p": "p.Arg621Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857339.1",
"strand": false,
"transcript": "XM_017001850.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs587750697",
"effect": "missense_variant",
"frequency_reference_population": 0.000018624749,
"gene_hgnc_id": 16683,
"gene_symbol": "OTUD7B",
"gnomad_exomes_ac": 26,
"gnomad_exomes_af": 0.0000178266,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262705,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.137,
"pos": 149944291,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.176,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020205.4"
}
]
}