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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: 10-119920847-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119920847&ref=A&alt=G&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": "SEC23IP",
"hgnc_id": 17018,
"hgvs_c": "c.2026-42A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_007190.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 90975,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1000,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7148,
"cdna_start": null,
"cds_end": null,
"cds_length": 3003,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007190.4",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.2026-42A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369075.8",
"protein_coding": true,
"protein_id": "NP_009121.1",
"strand": true,
"transcript": "NM_007190.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1000,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7148,
"cdna_start": null,
"cds_end": null,
"cds_length": 3003,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369075.8",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.2026-42A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007190.4",
"protein_coding": true,
"protein_id": "ENSP00000358071.3",
"strand": true,
"transcript": "ENST00000369075.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1046,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4361,
"cdna_start": null,
"cds_end": null,
"cds_length": 3141,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875162.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.2026-42A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545221.1",
"strand": true,
"transcript": "ENST00000875162.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1008,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4280,
"cdna_start": null,
"cds_end": null,
"cds_length": 3027,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970232.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.2026-42A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640291.1",
"strand": true,
"transcript": "ENST00000970232.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1000,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4673,
"cdna_start": null,
"cds_end": null,
"cds_length": 3003,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875157.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.2026-42A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545216.1",
"strand": true,
"transcript": "ENST00000875157.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1000,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3701,
"cdna_start": null,
"cds_end": null,
"cds_length": 3003,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875161.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.2026-42A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545220.1",
"strand": true,
"transcript": "ENST00000875161.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1000,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4803,
"cdna_start": null,
"cds_end": null,
"cds_length": 3003,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875163.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.2026-42A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545222.1",
"strand": true,
"transcript": "ENST00000875163.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1000,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": null,
"cds_end": null,
"cds_length": 3003,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923026.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.2026-42A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593085.1",
"strand": true,
"transcript": "ENST00000923026.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1000,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3455,
"cdna_start": null,
"cds_end": null,
"cds_length": 3003,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923027.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.2026-42A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593086.1",
"strand": true,
"transcript": "ENST00000923027.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 999,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7145,
"cdna_start": null,
"cds_end": null,
"cds_length": 3000,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411070.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.2026-42A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397999.1",
"strand": true,
"transcript": "NM_001411070.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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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": 19,
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"feature": "ENST00000705471.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.2026-42A>G",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000516127.1",
"strand": true,
"transcript": "ENST00000705471.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000875159.1",
"gene_hgnc_id": 17018,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000545218.1",
"strand": true,
"transcript": "ENST00000875159.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000923030.1",
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"protein_id": "ENSP00000593089.1",
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},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000875160.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.2014-42A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000545219.1",
"strand": true,
"transcript": "ENST00000875160.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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],
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"feature": "ENST00000923024.1",
"gene_hgnc_id": 17018,
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"hgvs_c": "c.1942-42A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000593083.1",
"strand": true,
"transcript": "ENST00000923024.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000923025.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.1942-42A>G",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000593084.1",
"strand": true,
"transcript": "ENST00000923025.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000970233.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.1939-42A>G",
"hgvs_p": null,
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"protein_coding": true,
"protein_id": "ENSP00000640292.1",
"strand": true,
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},
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"consequences": [
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],
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"feature": "ENST00000923028.1",
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"protein_id": "ENSP00000593087.1",
"strand": true,
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},
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"consequences": [
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],
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"feature": "ENST00000923023.1",
"gene_hgnc_id": 17018,
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"protein_id": "ENSP00000593082.1",
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},
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"consequences": [
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],
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"feature": "ENST00000923029.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.1585-42A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000593088.1",
"strand": true,
"transcript": "ENST00000923029.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2259,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875158.1",
"gene_hgnc_id": 17018,
"gene_symbol": "SEC23IP",
"hgvs_c": "c.1282-42A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000545217.1",
"strand": true,
"transcript": "ENST00000875158.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
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