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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: 6-167000051-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=167000051&ref=T&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": "CEP43",
"hgnc_id": 17012,
"hgvs_c": "c.103-9T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_007045.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000272980",
"hgnc_id": null,
"hgvs_c": "c.103-9T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000705249.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7699999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 399,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13956,
"cdna_start": null,
"cds_end": null,
"cds_length": 1200,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007045.4",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
"hgvs_c": "c.103-9T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366847.9",
"protein_coding": true,
"protein_id": "NP_008976.1",
"strand": true,
"transcript": "NM_007045.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 399,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13956,
"cdna_start": null,
"cds_end": null,
"cds_length": 1200,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366847.9",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
"hgvs_c": "c.103-9T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007045.4",
"protein_coding": true,
"protein_id": "ENSP00000355812.3",
"strand": true,
"transcript": "ENST00000366847.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 402,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": null,
"cds_end": null,
"cds_length": 1209,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000705249.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000272980",
"hgvs_c": "c.103-9T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516101.1",
"strand": true,
"transcript": "ENST00000705249.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 379,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": null,
"cds_end": null,
"cds_length": 1140,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000349556.5",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
"hgvs_c": "c.103-9T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000230248.6",
"strand": true,
"transcript": "ENST00000349556.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 461,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": null,
"cds_end": null,
"cds_length": 1386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000705176.1",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
"hgvs_c": "c.103-9T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516078.1",
"strand": true,
"transcript": "ENST00000705176.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 441,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": null,
"cds_end": null,
"cds_length": 1326,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000705175.1",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
"hgvs_c": "c.103-9T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516077.1",
"strand": true,
"transcript": "ENST00000705175.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936350.1",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
"hgvs_c": "c.103-9T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606409.1",
"strand": true,
"transcript": "ENST00000936350.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 398,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": null,
"cds_end": null,
"cds_length": 1197,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878124.1",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
"hgvs_c": "c.103-9T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548183.1",
"strand": true,
"transcript": "ENST00000878124.1",
"transcript_support_level": null
},
{
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"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000878128.1",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
"hgvs_c": "c.103-9T>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548187.1",
"strand": true,
"transcript": "ENST00000878128.1",
"transcript_support_level": null
},
{
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"aa_length": 390,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3655,
"cdna_start": null,
"cds_end": null,
"cds_length": 1173,
"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000878122.1",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548181.1",
"strand": true,
"transcript": "ENST00000878122.1",
"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_length": 1582,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000878125.1",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
"hgvs_c": "c.103-9T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548184.1",
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},
{
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],
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"feature": "ENST00000936349.1",
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"protein_coding": true,
"protein_id": "ENSP00000606408.1",
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},
{
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],
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"feature": "NM_194429.3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_919410.1",
"strand": true,
"transcript": "NM_194429.3",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000705256.1",
"gene_hgnc_id": null,
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"protein_coding": true,
"protein_id": "ENSP00000516107.1",
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},
{
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000705239.1",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000516097.1",
"strand": true,
"transcript": "ENST00000705239.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000705242.1",
"gene_hgnc_id": 17012,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000516100.1",
"strand": true,
"transcript": "ENST00000705242.1",
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},
{
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],
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"feature": "ENST00000936351.1",
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"strand": true,
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},
{
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],
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"strand": true,
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},
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],
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"feature": "ENST00000953640.1",
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"transcript": "ENST00000953640.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936352.1",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
"hgvs_c": "c.103-9T>A",
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"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606411.1",
"strand": true,
"transcript": "ENST00000936352.1",
"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,
"cds_length": 1077,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878123.1",
"gene_hgnc_id": 17012,
"gene_symbol": "CEP43",
"hgvs_c": "c.103-9T>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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