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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: 10-100240944-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=100240944&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CWF19L1",
"hgnc_id": 25613,
"hgvs_c": "c.1045-2713G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_018294.6",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CHUK-DT",
"hgnc_id": 55813,
"hgvs_c": "n.425+7501C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000751289.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 43599,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 538,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": null,
"cds_end": null,
"cds_length": 1617,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018294.6",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1045-2713G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354105.10",
"protein_coding": true,
"protein_id": "NP_060764.3",
"strand": false,
"transcript": "NM_018294.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 538,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": null,
"cds_end": null,
"cds_length": 1617,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354105.10",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1045-2713G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018294.6",
"protein_coding": true,
"protein_id": "ENSP00000326411.6",
"strand": false,
"transcript": "ENST00000354105.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 538,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2590,
"cdna_start": null,
"cds_end": null,
"cds_length": 1617,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950162.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1045-2713G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620221.1",
"strand": false,
"transcript": "ENST00000950162.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2597,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950161.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1042-2713G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620220.1",
"strand": false,
"transcript": "ENST00000950161.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 535,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": null,
"cds_end": null,
"cds_length": 1608,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905384.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1045-2713G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575443.1",
"strand": false,
"transcript": "ENST00000905384.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001303404.2",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1045-2713G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290333.1",
"strand": false,
"transcript": "NM_001303404.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905383.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.1045-2713G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575442.1",
"strand": false,
"transcript": "ENST00000905383.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 427,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": null,
"cds_end": null,
"cds_length": 1284,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950160.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.712-2713G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620219.1",
"strand": false,
"transcript": "ENST00000950160.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 426,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": null,
"cds_end": null,
"cds_length": 1281,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921478.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.709-2713G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591537.1",
"strand": false,
"transcript": "ENST00000921478.1",
"transcript_support_level": null
},
{
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"aa_length": 401,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": null,
"cds_end": null,
"cds_length": 1206,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001303405.2",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.634-2713G>A",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290334.1",
"strand": false,
"transcript": "NM_001303405.2",
"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": 2325,
"cdna_start": null,
"cds_end": null,
"cds_length": 1206,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "NM_001303406.2",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.634-2713G>A",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001290335.1",
"strand": false,
"transcript": "NM_001303406.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 2360,
"cdna_start": null,
"cds_end": null,
"cds_length": 882,
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"consequences": [
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],
"exon_count": 13,
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"feature": "NM_001303407.2",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "c.310-2713G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001290336.1",
"strand": false,
"transcript": "NM_001303407.2",
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},
{
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"biotype": "retained_intron",
"canonical": false,
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"consequences": [
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],
"exon_count": 3,
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"feature": "ENST00000466408.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "n.399-2713G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000466408.1",
"transcript_support_level": 2
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 659,
"cdna_start": null,
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"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000466955.5",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "n.586-2713G>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": false,
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"strand": false,
"transcript": "ENST00000466955.5",
"transcript_support_level": 3
},
{
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"biotype": "nonsense_mediated_decay",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000468709.5",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "n.*595-2713G>A",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492991.1",
"strand": false,
"transcript": "ENST00000468709.5",
"transcript_support_level": 2
},
{
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
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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": "ENST00000478047.1",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "n.1200-2713G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000478047.1",
"transcript_support_level": 2
},
{
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"biotype": "nonsense_mediated_decay",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000482452.5",
"gene_hgnc_id": 25613,
"gene_symbol": "CWF19L1",
"hgvs_c": "n.*432-2713G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000492899.1",
"strand": false,
"transcript": "ENST00000482452.5",
"transcript_support_level": 5
},
{
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"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000751289.1",
"gene_hgnc_id": 55813,
"gene_symbol": "CHUK-DT",
"hgvs_c": "n.425+7501C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000751289.1",
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},
{
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"biotype": "pseudogene",
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"consequences": [
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],
"exon_count": 4,
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"feature": "ENST00000751290.1",
"gene_hgnc_id": 55813,
"gene_symbol": "CHUK-DT",
"hgvs_c": "n.384+7501C>T",
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"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000751290.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 615,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000751291.1",
"gene_hgnc_id": 55813,
"gene_symbol": "CHUK-DT",
"hgvs_c": "n.270+7501C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000751291.1",
"transcript_support_level": null
},
{
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 387,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000751292.1",
"gene_hgnc_id": 55813,
"gene_symbol": "CHUK-DT",
"hgvs_c": "n.42+11220C>T",
"hgvs_p": null,
"intron_rank": 1,
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