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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: 8-144051481-GCGGG-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144051481&ref=GCGGG&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "OPLAH",
"hgnc_id": 8149,
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_017570.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000293498",
"hgnc_id": null,
"hgvs_c": "n.718_719delGG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000686861.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"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": null,
"aa_end": null,
"aa_length": 1288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": null,
"cds_end": null,
"cds_length": 3867,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017570.5",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000618853.5",
"protein_coding": true,
"protein_id": "NP_060040.1",
"strand": false,
"transcript": "NM_017570.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": null,
"cds_end": null,
"cds_length": 3867,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618853.5",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017570.5",
"protein_coding": true,
"protein_id": "ENSP00000480476.1",
"strand": false,
"transcript": "ENST00000618853.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1298,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4068,
"cdna_start": null,
"cds_end": null,
"cds_length": 3897,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894965.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3751-12_3751-11delCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565024.1",
"strand": false,
"transcript": "ENST00000894965.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1296,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4057,
"cdna_start": null,
"cds_end": null,
"cds_length": 3891,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919620.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3745-12_3745-11delCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589679.1",
"strand": false,
"transcript": "ENST00000919620.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4089,
"cdna_start": null,
"cds_end": null,
"cds_length": 3867,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894953.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565012.1",
"strand": false,
"transcript": "ENST00000894953.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4230,
"cdna_start": null,
"cds_end": null,
"cds_length": 3867,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894954.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565013.1",
"strand": false,
"transcript": "ENST00000894954.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": null,
"cds_end": null,
"cds_length": 3867,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894955.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565014.1",
"strand": false,
"transcript": "ENST00000894955.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": null,
"cds_end": null,
"cds_length": 3867,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894956.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565015.1",
"strand": false,
"transcript": "ENST00000894956.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4104,
"cdna_start": null,
"cds_end": null,
"cds_length": 3867,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894957.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"intron_rank": 26,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565016.1",
"strand": false,
"transcript": "ENST00000894957.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4107,
"cdna_start": null,
"cds_end": null,
"cds_length": 3867,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894958.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"intron_rank": 26,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565017.1",
"strand": false,
"transcript": "ENST00000894958.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4274,
"cdna_start": null,
"cds_end": null,
"cds_length": 3867,
"cds_start": null,
"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
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"feature": "ENST00000894959.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000565018.1",
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"transcript": "ENST00000894959.1",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
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"feature": "ENST00000894960.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000565019.1",
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},
{
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"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000894961.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"intron_rank": 26,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565020.1",
"strand": false,
"transcript": "ENST00000894961.1",
"transcript_support_level": null
},
{
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"canonical": false,
"cdna_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000971668.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641727.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000971669.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"intron_rank": 26,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641728.1",
"strand": false,
"transcript": "ENST00000971669.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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"cds_length": 3867,
"cds_start": null,
"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971670.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641729.1",
"strand": false,
"transcript": "ENST00000971670.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000971671.1",
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"hgvs_c": "c.3721-12_3721-11delCC",
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},
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"consequences": [
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],
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"feature": "ENST00000971672.1",
"gene_hgnc_id": 8149,
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"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641731.1",
"strand": false,
"transcript": "ENST00000971672.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000971674.1",
"gene_hgnc_id": 8149,
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"hgvs_c": "c.3721-12_3721-11delCC",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641733.1",
"strand": false,
"transcript": "ENST00000971674.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971676.1",
"gene_hgnc_id": 8149,
"gene_symbol": "OPLAH",
"hgvs_c": "c.3721-12_3721-11delCC",
"hgvs_p": null,
"intron_rank": 27,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641735.1",
"strand": false,
"transcript": "ENST00000971676.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
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