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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: 3-15635535-T-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15635535&ref=T&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "BTD",
"hgnc_id": 1122,
"hgvs_c": "c.",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000303498.10",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"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": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9964,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643237.3",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370658.1",
"protein_coding": true,
"protein_id": "ENSP00000495254.2",
"strand": true,
"transcript": "ENST00000643237.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000303498.10",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000306477.6",
"strand": true,
"transcript": "ENST00000303498.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4428,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000900241.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570300.1",
"strand": true,
"transcript": "ENST00000900241.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4428,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000900241.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570300.1",
"strand": true,
"transcript": "ENST00000900241.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427382.2",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397113.2",
"strand": true,
"transcript": "ENST00000427382.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000436193.6",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394277.2",
"strand": true,
"transcript": "ENST00000436193.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000437172.6",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400995.2",
"strand": true,
"transcript": "ENST00000437172.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000449107.7",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388212.2",
"strand": true,
"transcript": "ENST00000449107.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646371.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495866.1",
"strand": true,
"transcript": "ENST00000646371.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900224.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570283.1",
"strand": true,
"transcript": "ENST00000900224.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900225.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570284.1",
"strand": true,
"transcript": "ENST00000900225.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900226.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570285.1",
"strand": true,
"transcript": "ENST00000900226.1",
"transcript_support_level": null
},
{
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"aa_length": 523,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000900227.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000570286.1",
"strand": true,
"transcript": "ENST00000900227.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000900228.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570287.1",
"strand": true,
"transcript": "ENST00000900228.1",
"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": 2120,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000900229.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570288.1",
"strand": true,
"transcript": "ENST00000900229.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900230.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570289.1",
"strand": true,
"transcript": "ENST00000900230.1",
"transcript_support_level": null
},
{
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"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900231.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570290.1",
"strand": true,
"transcript": "ENST00000900231.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900232.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000570291.1",
"strand": true,
"transcript": "ENST00000900232.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900233.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570292.1",
"strand": true,
"transcript": "ENST00000900233.1",
"transcript_support_level": null
},
{
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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": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
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"feature": "ENST00000900234.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000570293.1",
"strand": true,
"transcript": "ENST00000900234.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900235.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570294.1",
"strand": true,
"transcript": "ENST00000900235.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900236.1",
"gene_hgnc_id": 1122,
"gene_symbol": "BTD",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570295.1",
"strand": true,
"transcript": "ENST00000900236.1",
"transcript_support_level": null
},
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