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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: 4-16016701-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=16016701&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PROM1",
"hgnc_id": 9454,
"hgvs_c": "c.1003-461G>T",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_006017.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 865,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4021,
"cdna_start": null,
"cds_end": null,
"cds_length": 2598,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006017.3",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.1003-461G>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000447510.7",
"protein_coding": true,
"protein_id": "NP_006008.1",
"strand": false,
"transcript": "NM_006017.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 865,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4021,
"cdna_start": null,
"cds_end": null,
"cds_length": 2598,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000447510.7",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.1003-461G>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006017.3",
"protein_coding": true,
"protein_id": "ENSP00000415481.2",
"strand": false,
"transcript": "ENST00000447510.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 856,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4349,
"cdna_start": null,
"cds_end": null,
"cds_length": 2571,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505450.5",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426090.1",
"strand": false,
"transcript": "ENST00000505450.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 856,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4014,
"cdna_start": null,
"cds_end": null,
"cds_length": 2571,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000508167.5",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427346.1",
"strand": false,
"transcript": "ENST00000508167.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000511153.5",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "n.*898-461G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424569.1",
"strand": false,
"transcript": "ENST00000511153.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 867,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4050,
"cdna_start": null,
"cds_end": null,
"cds_length": 2604,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971409.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.1009-461G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641468.1",
"strand": false,
"transcript": "ENST00000971409.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 865,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": null,
"cds_end": null,
"cds_length": 2598,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000510224.5",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.1003-461G>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426809.1",
"strand": false,
"transcript": "ENST00000510224.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 856,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4013,
"cdna_start": null,
"cds_end": null,
"cds_length": 2571,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145847.2",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139319.1",
"strand": false,
"transcript": "NM_001145847.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 856,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3994,
"cdna_start": null,
"cds_end": null,
"cds_length": 2571,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145848.2",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139320.1",
"strand": false,
"transcript": "NM_001145848.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 856,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3985,
"cdna_start": null,
"cds_end": null,
"cds_length": 2571,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001371406.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358335.1",
"strand": false,
"transcript": "NM_001371406.1",
"transcript_support_level": null
},
{
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"aa_length": 856,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4077,
"cdna_start": null,
"cds_end": null,
"cds_length": 2571,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888874.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558933.1",
"strand": false,
"transcript": "ENST00000888874.1",
"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": 4567,
"cdna_start": null,
"cds_end": null,
"cds_length": 2571,
"cds_start": null,
"consequences": [
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],
"exon_count": 28,
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"feature": "ENST00000888875.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558934.1",
"strand": false,
"transcript": "ENST00000888875.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000888876.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558935.1",
"strand": false,
"transcript": "ENST00000888876.1",
"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": 4360,
"cdna_start": null,
"cds_end": null,
"cds_length": 2571,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888877.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558936.1",
"strand": false,
"transcript": "ENST00000888877.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
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"feature": "ENST00000888878.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558937.1",
"strand": false,
"transcript": "ENST00000888878.1",
"transcript_support_level": null
},
{
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"aa_ref": 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": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888879.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558938.1",
"strand": false,
"transcript": "ENST00000888879.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4041,
"cdna_start": null,
"cds_end": null,
"cds_length": 2571,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888880.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558939.1",
"strand": false,
"transcript": "ENST00000888880.1",
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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": 27,
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"feature": "ENST00000888881.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558940.1",
"strand": false,
"transcript": "ENST00000888881.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000971411.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
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"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641470.1",
"strand": false,
"transcript": "ENST00000971411.1",
"transcript_support_level": null
},
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441173.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428102.1",
"strand": false,
"transcript": "NM_001441173.1",
"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": 3970,
"cdna_start": null,
"cds_end": null,
"cds_length": 2547,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888870.1",
"gene_hgnc_id": 9454,
"gene_symbol": "PROM1",
"hgvs_c": "c.976-461G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558929.1",
"strand": false,
"transcript": "ENST00000888870.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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