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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: 20-36125460-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36125460&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EPB41L1",
"hgnc_id": 3378,
"hgvs_c": "c.17G>A",
"hgvs_p": "p.Arg6Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001258330.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1103,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.97,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " autosomal dominant 11,Intellectual disability",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07053476572036743,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 880,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6327,
"cdna_start": null,
"cds_end": null,
"cds_length": 2643,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373946.7",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-15+11661G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363057.4",
"strand": true,
"transcript": "ENST00000373946.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 779,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": null,
"cds_end": null,
"cds_length": 2340,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000202028.9",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-10+12980G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000202028.5",
"strand": true,
"transcript": "ENST00000202028.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 701,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5745,
"cdna_start": 197,
"cds_end": null,
"cds_length": 2106,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001258330.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.17G>A",
"hgvs_p": "p.Arg6Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245259.1",
"strand": true,
"transcript": "NM_001258330.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 701,
"aa_ref": "R",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3287,
"cdna_start": 195,
"cds_end": null,
"cds_length": 2106,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000628415.2",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.17G>A",
"hgvs_p": "p.Arg6Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487049.2",
"strand": true,
"transcript": "ENST00000628415.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 880,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3478,
"cdna_start": null,
"cds_end": null,
"cds_length": 2643,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000887237.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557296.1",
"strand": true,
"transcript": "ENST00000887237.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 743,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5933,
"cdna_start": null,
"cds_end": null,
"cds_length": 2232,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887205.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557264.1",
"strand": true,
"transcript": "ENST00000887205.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 743,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": null,
"cds_end": null,
"cds_length": 2232,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000887216.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557275.1",
"strand": true,
"transcript": "ENST00000887216.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 731,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": null,
"cds_end": null,
"cds_length": 2196,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000887230.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557289.1",
"strand": true,
"transcript": "ENST00000887230.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 716,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3323,
"cdna_start": null,
"cds_end": null,
"cds_length": 2151,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000887232.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557291.1",
"strand": true,
"transcript": "ENST00000887232.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 704,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4494,
"cdna_start": null,
"cds_end": null,
"cds_length": 2115,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000887206.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557265.1",
"strand": true,
"transcript": "ENST00000887206.1",
"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": 3385,
"cdna_start": null,
"cds_end": null,
"cds_length": 2115,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887209.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557268.1",
"strand": true,
"transcript": "ENST00000887209.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3382,
"cdna_start": null,
"cds_end": null,
"cds_length": 2115,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
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"exon_rank_end": null,
"feature": "ENST00000887217.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-82G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000557276.1",
"strand": true,
"transcript": "ENST00000887217.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 19,
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"exon_rank_end": null,
"feature": "ENST00000887220.1",
"gene_hgnc_id": 3378,
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"hgvs_c": "c.-82G>A",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000557279.1",
"strand": true,
"transcript": "ENST00000887220.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 460,
"cdna_start": null,
"cds_end": null,
"cds_length": 177,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000427533.2",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000408877.1",
"strand": true,
"transcript": "ENST00000427533.2",
"transcript_support_level": 3
},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
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"feature": "NM_001258329.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-15+11661G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245258.1",
"strand": true,
"transcript": "NM_001258329.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": null,
"cds_end": null,
"cds_length": 2643,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887223.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-15+12980G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557282.1",
"strand": true,
"transcript": "ENST00000887223.1",
"transcript_support_level": null
},
{
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"aa_length": 869,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3858,
"cdna_start": null,
"cds_end": null,
"cds_length": 2610,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887207.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-15+12980G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000557266.1",
"strand": true,
"transcript": "ENST00000887207.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
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"feature": "ENST00000887210.1",
"gene_hgnc_id": 3378,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000557269.1",
"strand": true,
"transcript": "ENST00000887210.1",
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},
{
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"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
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"feature": "ENST00000887221.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-15+2713G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000557280.1",
"strand": true,
"transcript": "ENST00000887221.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3962,
"cdna_start": null,
"cds_end": null,
"cds_length": 2607,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887211.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-15+2713G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557270.1",
"strand": true,
"transcript": "ENST00000887211.1",
"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": 3775,
"cdna_start": null,
"cds_end": null,
"cds_length": 2607,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887215.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-15+12980G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557274.1",
"strand": true,
"transcript": "ENST00000887215.1",
"transcript_support_level": null
},
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