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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: 5-146455271-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=146455271&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCERG1",
"hgnc_id": 15630,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001382548.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.5631,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4901144802570343,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": 292,
"cds_end": null,
"cds_length": 3348,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382548.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000679501.2",
"protein_coding": true,
"protein_id": "NP_001369477.1",
"strand": true,
"transcript": "NM_001382548.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": 292,
"cds_end": null,
"cds_length": 3348,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000679501.2",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382548.1",
"protein_coding": true,
"protein_id": "ENSP00000505217.1",
"strand": true,
"transcript": "ENST00000679501.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1098,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4654,
"cdna_start": 313,
"cds_end": null,
"cds_length": 3297,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000296702.9",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296702.5",
"strand": true,
"transcript": "ENST00000296702.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3632,
"cdna_start": 292,
"cds_end": null,
"cds_length": 3234,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000394421.7",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377943.2",
"strand": true,
"transcript": "ENST00000394421.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1108,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 313,
"cds_end": null,
"cds_length": 3327,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914700.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584759.1",
"strand": true,
"transcript": "ENST00000914700.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1098,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4633,
"cdna_start": 292,
"cds_end": null,
"cds_length": 3297,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006706.4",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006697.2",
"strand": true,
"transcript": "NM_006706.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1096,
"aa_ref": "P",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4731,
"cdna_start": 339,
"cds_end": null,
"cds_length": 3291,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001400082.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Pro73Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387011.1",
"strand": true,
"transcript": "NM_001400082.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1095,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4631,
"cdna_start": 297,
"cds_end": null,
"cds_length": 3288,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914698.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584757.1",
"strand": true,
"transcript": "ENST00000914698.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4621,
"cdna_start": 292,
"cds_end": null,
"cds_length": 3285,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001400077.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387006.1",
"strand": true,
"transcript": "NM_001400077.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1088,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4150,
"cdna_start": 325,
"cds_end": null,
"cds_length": 3267,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914702.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584761.1",
"strand": true,
"transcript": "ENST00000914702.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4570,
"cdna_start": 292,
"cds_end": null,
"cds_length": 3234,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001040006.2",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035095.1",
"strand": true,
"transcript": "NM_001040006.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4555,
"cdna_start": 292,
"cds_end": null,
"cds_length": 3219,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001400083.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387012.1",
"strand": true,
"transcript": "NM_001400083.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4549,
"cdna_start": 292,
"cds_end": null,
"cds_length": 3213,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001400084.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387013.1",
"strand": true,
"transcript": "NM_001400084.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": 303,
"cds_end": null,
"cds_length": 3213,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914697.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584756.1",
"strand": true,
"transcript": "ENST00000914697.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4537,
"cdna_start": 292,
"cds_end": null,
"cds_length": 3201,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001400085.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387014.1",
"strand": true,
"transcript": "NM_001400085.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1057,
"aa_ref": "P",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 382,
"cds_end": null,
"cds_length": 3174,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001400092.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387021.1",
"strand": true,
"transcript": "NM_001400092.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4486,
"cdna_start": 292,
"cds_end": null,
"cds_length": 3150,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001400093.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387022.1",
"strand": true,
"transcript": "NM_001400093.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1049,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4510,
"cdna_start": 314,
"cds_end": null,
"cds_length": 3150,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914696.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584755.1",
"strand": true,
"transcript": "ENST00000914696.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1047,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4480,
"cdna_start": 292,
"cds_end": null,
"cds_length": 3144,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001400094.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387023.1",
"strand": true,
"transcript": "NM_001400094.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1047,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4480,
"cdna_start": 292,
"cds_end": null,
"cds_length": 3144,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001400095.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387024.1",
"strand": true,
"transcript": "NM_001400095.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4013,
"cdna_start": 300,
"cds_end": null,
"cds_length": 3123,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914701.1",
"gene_hgnc_id": 15630,
"gene_symbol": "TCERG1",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_001741983.3",
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}
],
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"dbscsnv_ada_score": null,
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"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.34,
"pos": 146455271,
"ref": "C",
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"splice_prediction_selected": "Benign",
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"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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}
]
}