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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: 12-21501710-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21501710&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "RECQL",
"hgnc_id": 9948,
"hgvs_c": "c.-586G>A",
"hgvs_p": null,
"inheritance_mode": "Unknown,AD,AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_002907.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "GOLT1B",
"hgnc_id": 20175,
"hgvs_c": "c.-214C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_016072.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7099999785423279,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 649,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": null,
"cds_end": null,
"cds_length": 1950,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002907.4",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-586G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000444129.7",
"protein_coding": true,
"protein_id": "NP_002898.2",
"strand": true,
"transcript": "NM_002907.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 649,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": null,
"cds_end": null,
"cds_length": 1950,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444129.7",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-586G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002907.4",
"protein_coding": true,
"protein_id": "ENSP00000416739.2",
"strand": true,
"transcript": "ENST00000444129.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 138,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": null,
"cds_end": null,
"cds_length": 417,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016072.5",
"gene_hgnc_id": 20175,
"gene_symbol": "GOLT1B",
"hgvs_c": "c.-214C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000229314.10",
"protein_coding": true,
"protein_id": "NP_057156.1",
"strand": true,
"transcript": "NM_016072.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 138,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": null,
"cds_end": null,
"cds_length": 417,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000229314.10",
"gene_hgnc_id": 20175,
"gene_symbol": "GOLT1B",
"hgvs_c": "c.-214C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016072.5",
"protein_coding": true,
"protein_id": "ENSP00000229314.4",
"strand": true,
"transcript": "ENST00000229314.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 649,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": null,
"cds_end": null,
"cds_length": 1950,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000421138.6",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-389G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395449.2",
"strand": true,
"transcript": "ENST00000421138.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 74,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 933,
"cdna_start": null,
"cds_end": null,
"cds_length": 225,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000542038.5",
"gene_hgnc_id": 20175,
"gene_symbol": "GOLT1B",
"hgvs_c": "c.-314C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446231.1",
"strand": true,
"transcript": "ENST00000542038.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 813,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535593.5",
"gene_hgnc_id": 20175,
"gene_symbol": "GOLT1B",
"hgvs_c": "n.-71C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000535593.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1210,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539025.5",
"gene_hgnc_id": 20175,
"gene_symbol": "GOLT1B",
"hgvs_c": "n.-214C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000446405.1",
"strand": true,
"transcript": "ENST00000539025.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 659,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3742,
"cdna_start": null,
"cds_end": null,
"cds_length": 1980,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965023.1",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-586G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635082.1",
"strand": true,
"transcript": "ENST00000965023.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 649,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3548,
"cdna_start": null,
"cds_end": null,
"cds_length": 1950,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032941.3",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-389G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_116559.1",
"strand": true,
"transcript": "NM_032941.3",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 649,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5303,
"cdna_start": null,
"cds_end": null,
"cds_length": 1950,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887707.1",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-2140G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557766.1",
"strand": true,
"transcript": "ENST00000887707.1",
"transcript_support_level": null
},
{
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"aa_length": 649,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": null,
"cds_end": null,
"cds_length": 1950,
"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887709.1",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-275G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000557768.1",
"strand": true,
"transcript": "ENST00000887709.1",
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},
{
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000887710.1",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-582G>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557769.1",
"strand": true,
"transcript": "ENST00000887710.1",
"transcript_support_level": null
},
{
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"aa_ref": 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": 1950,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965022.1",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-289G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000635081.1",
"strand": true,
"transcript": "ENST00000965022.1",
"transcript_support_level": null
},
{
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"cds_length": 1815,
"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000887708.1",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-586G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557767.1",
"strand": true,
"transcript": "ENST00000887708.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": null,
"cds_end": null,
"cds_length": 1752,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965021.1",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-343G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000635080.1",
"strand": true,
"transcript": "ENST00000965021.1",
"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": 3191,
"cdna_start": null,
"cds_end": null,
"cds_length": 1752,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965024.1",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-293G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000635083.1",
"strand": true,
"transcript": "ENST00000965024.1",
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},
{
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"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
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"feature": "ENST00000396093.7",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-339G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000379400.3",
"strand": true,
"transcript": "ENST00000396093.7",
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},
{
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"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
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"feature": "ENST00000314748.10",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-496G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000318727.6",
"strand": true,
"transcript": "ENST00000314748.10",
"transcript_support_level": 5
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 600,
"cdna_start": null,
"cds_end": null,
"cds_length": 394,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000542432.5",
"gene_hgnc_id": 9948,
"gene_symbol": "RECQL",
"hgvs_c": "c.-321G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445555.1",
"strand": true,
"transcript": "ENST00000542432.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"aa_length": 128,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1055,
"cdna_start": null,
"cds_end": null,
"cds_length": 387,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540141.5",
"gene_hgnc_id": 20175,
"gene_symbol": "GOLT1B",
"hgvs_c": "c.-214C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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