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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: 6-109153833-GCC-ACG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109153833&ref=GCC&alt=ACG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "CEP57L1",
"hgnc_id": 21561,
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001350654.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12903,
"cdna_start": 535,
"cds_end": null,
"cds_length": 1383,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001271852.3",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000517392.6",
"protein_coding": true,
"protein_id": "NP_001258781.1",
"strand": true,
"transcript": "NM_001271852.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12903,
"cdna_start": 535,
"cds_end": null,
"cds_length": 1383,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000517392.6",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001271852.3",
"protein_coding": true,
"protein_id": "ENSP00000427844.1",
"strand": true,
"transcript": "ENST00000517392.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1383,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359793.7",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352841.3",
"strand": true,
"transcript": "ENST00000359793.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12954,
"cdna_start": 535,
"cds_end": null,
"cds_length": 1434,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350654.2",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337583.1",
"strand": true,
"transcript": "NM_001350654.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13010,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1434,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350655.2",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337584.1",
"strand": true,
"transcript": "NM_001350655.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12954,
"cdna_start": 535,
"cds_end": null,
"cds_length": 1434,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350656.2",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337585.1",
"strand": true,
"transcript": "NM_001350656.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13143,
"cdna_start": 724,
"cds_end": null,
"cds_length": 1434,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350657.2",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337586.1",
"strand": true,
"transcript": "NM_001350657.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13398,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1434,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350658.2",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337587.1",
"strand": true,
"transcript": "NM_001350658.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1680,
"cdna_start": 513,
"cds_end": null,
"cds_length": 1434,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000368970.6",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357966.2",
"strand": true,
"transcript": "ENST00000368970.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3968,
"cdna_start": 537,
"cds_end": null,
"cds_length": 1434,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873358.1",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543417.1",
"strand": true,
"transcript": "ENST00000873358.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 602,
"cds_end": null,
"cds_length": 1434,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873360.1",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543419.1",
"strand": true,
"transcript": "ENST00000873360.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1434,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921542.1",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591601.1",
"strand": true,
"transcript": "ENST00000921542.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 551,
"cds_end": null,
"cds_length": 1434,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960034.1",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630093.1",
"strand": true,
"transcript": "ENST00000960034.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 463,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1392,
"cds_start": 472,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000523787.5",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.472_474delGCCinsACG",
"hgvs_p": "p.Ala158Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430529.1",
"strand": true,
"transcript": "ENST00000523787.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 461,
"aa_ref": "A",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13161,
"cdna_start": 742,
"cds_end": null,
"cds_length": 1386,
"cds_start": 415,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350659.2",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.415_417delGCCinsACG",
"hgvs_p": "p.Ala139Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337588.1",
"strand": true,
"transcript": "NM_001350659.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 461,
"aa_ref": "A",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2392,
"cdna_start": 476,
"cds_end": null,
"cds_length": 1386,
"cds_start": 415,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873363.1",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.415_417delGCCinsACG",
"hgvs_p": "p.Ala139Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543422.1",
"strand": true,
"transcript": "ENST00000873363.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13054,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1383,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001083535.3",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001077004.1",
"strand": true,
"transcript": "NM_001083535.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13158,
"cdna_start": 790,
"cds_end": null,
"cds_length": 1383,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350652.2",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337581.1",
"strand": true,
"transcript": "NM_001350652.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13347,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1383,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350653.2",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337582.1",
"strand": true,
"transcript": "NM_001350653.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13023,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1383,
"cds_start": 463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_173830.6",
"gene_hgnc_id": 21561,
"gene_symbol": "CEP57L1",
"hgvs_c": "c.463_465delGCCinsACG",
"hgvs_p": "p.Ala155Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_776191.1",
"strand": true,
"transcript": "NM_173830.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
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