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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: 5-93741107-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=93741107&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "POU5F2",
"hgnc_id": 26367,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Ala153Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_153216.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ARB2A",
"hgnc_id": 25365,
"hgvs_c": "c.1108+35052G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_032042.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.5179,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7254987359046936,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 328,
"aa_ref": "A",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8381,
"cdna_start": 494,
"cds_end": null,
"cds_length": 987,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_153216.2",
"gene_hgnc_id": 26367,
"gene_symbol": "POU5F2",
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Ala153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000606183.4",
"protein_coding": true,
"protein_id": "NP_694948.1",
"strand": false,
"transcript": "NM_153216.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 328,
"aa_ref": "A",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8381,
"cdna_start": 494,
"cds_end": null,
"cds_length": 987,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000606183.4",
"gene_hgnc_id": 26367,
"gene_symbol": "POU5F2",
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Ala153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153216.2",
"protein_coding": true,
"protein_id": "ENSP00000489796.1",
"strand": false,
"transcript": "ENST00000606183.4",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 416,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": null,
"cds_end": null,
"cds_length": 1251,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032042.6",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.1108+35052G>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395965.8",
"protein_coding": true,
"protein_id": "NP_114431.2",
"strand": false,
"transcript": "NM_032042.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 416,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": null,
"cds_end": null,
"cds_length": 1251,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395965.8",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.1108+35052G>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032042.6",
"protein_coding": true,
"protein_id": "ENSP00000379294.3",
"strand": false,
"transcript": "ENST00000395965.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 428,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4345,
"cdna_start": null,
"cds_end": null,
"cds_length": 1287,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881906.1",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.1144+2430G>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551965.1",
"strand": false,
"transcript": "ENST00000881906.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 416,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7024,
"cdna_start": null,
"cds_end": null,
"cds_length": 1251,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881903.1",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.1108+35052G>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551962.1",
"strand": false,
"transcript": "ENST00000881903.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 416,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4525,
"cdna_start": null,
"cds_end": null,
"cds_length": 1251,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881908.1",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.1108+35052G>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551967.1",
"strand": false,
"transcript": "ENST00000881908.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 394,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4272,
"cdna_start": null,
"cds_end": null,
"cds_length": 1185,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933325.1",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.1042+35052G>C",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603384.1",
"strand": false,
"transcript": "ENST00000933325.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 377,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4195,
"cdna_start": null,
"cds_end": null,
"cds_length": 1134,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881905.1",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.991+35052G>C",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551964.1",
"strand": false,
"transcript": "ENST00000881905.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 370,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4596,
"cdna_start": null,
"cds_end": null,
"cds_length": 1113,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001163417.1",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.970+35052G>C",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001156889.1",
"strand": false,
"transcript": "NM_001163417.1",
"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": 1369,
"cdna_start": null,
"cds_end": null,
"cds_length": 1113,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
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"feature": "ENST00000509163.5",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.970+35052G>C",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000423841.1",
"strand": false,
"transcript": "ENST00000509163.5",
"transcript_support_level": 2
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1065,
"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000881910.1",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.922+35052G>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551969.1",
"strand": false,
"transcript": "ENST00000881910.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000881904.1",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.889+35052G>C",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551963.1",
"strand": false,
"transcript": "ENST00000881904.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000881909.1",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.889+35052G>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551968.1",
"strand": false,
"transcript": "ENST00000881909.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000881907.1",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.850+35052G>C",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551966.1",
"strand": false,
"transcript": "ENST00000881907.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4404,
"cdna_start": null,
"cds_end": null,
"cds_length": 921,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
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"feature": "NM_001163418.1",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.778+35052G>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001156890.1",
"strand": false,
"transcript": "NM_001163418.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000505869.5",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.778+35052G>C",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000426284.1",
"strand": false,
"transcript": "ENST00000505869.5",
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},
{
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000950072.1",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
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"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000620131.1",
"strand": false,
"transcript": "ENST00000950072.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 8,
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"feature": "ENST00000509739.5",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.667+35052G>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421834.1",
"strand": false,
"transcript": "ENST00000509739.5",
"transcript_support_level": 2
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5007,
"cdna_start": null,
"cds_end": null,
"cds_length": 1251,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006714717.4",
"gene_hgnc_id": 25365,
"gene_symbol": "ARB2A",
"hgvs_c": "c.1108+35052G>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006714780.1",
"strand": false,
"transcript": "XM_006714717.4",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5113,
"cdna_start": null,
"cds_end": null,
"cds_length": 1185,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009953.2",
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