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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: 1-21687278-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=21687278&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 21687278,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000308271.14",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.3010-39C>A",
"hgvs_p": null,
"transcript": "NM_032236.8",
"protein_id": "NP_115612.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4419,
"mane_select": "ENST00000308271.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.3010-39C>A",
"hgvs_p": null,
"transcript": "ENST00000308271.14",
"protein_id": "ENSP00000309262.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4419,
"mane_select": "NM_032236.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.3046-39C>A",
"hgvs_p": null,
"transcript": "ENST00000529637.5",
"protein_id": "ENSP00000431949.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": -4,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2854-39C>A",
"hgvs_p": null,
"transcript": "ENST00000400301.5",
"protein_id": "ENSP00000383157.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 983,
"cds_start": -4,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.3007-39C>A",
"hgvs_p": null,
"transcript": "NM_001350167.2",
"protein_id": "NP_001337096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1034,
"cds_start": -4,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.3007-39C>A",
"hgvs_p": null,
"transcript": "NM_001350168.2",
"protein_id": "NP_001337097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1034,
"cds_start": -4,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.3004-39C>A",
"hgvs_p": null,
"transcript": "NM_001350166.2",
"protein_id": "NP_001337095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1033,
"cds_start": -4,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2854-39C>A",
"hgvs_p": null,
"transcript": "NM_001330394.3",
"protein_id": "NP_001317323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 983,
"cds_start": -4,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2809-39C>A",
"hgvs_p": null,
"transcript": "NM_001350164.2",
"protein_id": "NP_001337093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 968,
"cds_start": -4,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1468-39C>A",
"hgvs_p": null,
"transcript": "ENST00000374732.7",
"protein_id": "ENSP00000363864.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "n.742-39C>A",
"hgvs_p": null,
"transcript": "ENST00000464577.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2851-39C>A",
"hgvs_p": null,
"transcript": "XM_047432026.1",
"protein_id": "XP_047287982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
"cds_start": -4,
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"cds_length": 2949,
"cdna_start": null,
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"cdna_length": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2851-39C>A",
"hgvs_p": null,
"transcript": "XM_047432027.1",
"protein_id": "XP_047287983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2812-39C>A",
"hgvs_p": null,
"transcript": "XM_006710955.5",
"protein_id": "XP_006711018.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2809-39C>A",
"hgvs_p": null,
"transcript": "XM_011542264.2",
"protein_id": "XP_011540566.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2809-39C>A",
"hgvs_p": null,
"transcript": "XM_047432029.1",
"protein_id": "XP_047287985.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2806-39C>A",
"hgvs_p": null,
"transcript": "XM_047432030.1",
"protein_id": "XP_047287986.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2656-39C>A",
"hgvs_p": null,
"transcript": "XM_047432031.1",
"protein_id": "XP_047287987.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 917,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1768-39C>A",
"hgvs_p": null,
"transcript": "XM_011542267.4",
"protein_id": "XP_011540569.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 621,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.1768-39C>A",
"hgvs_p": null,
"transcript": "XM_011542268.3",
"protein_id": "XP_011540570.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 621,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"dbsnp": "rs10493008",
"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": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.05,
"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": "ENST00000308271.14",
"gene_symbol": "USP48",
"hgnc_id": 18533,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.3010-39C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}