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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: 9-113978212-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113978212&ref=G&alt=A&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": "ZNF618",
"hgnc_id": 29416,
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001318042.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 84451,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 954,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9363,
"cdna_start": null,
"cds_end": null,
"cds_length": 2865,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318042.2",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374126.10",
"protein_coding": true,
"protein_id": "NP_001304971.1",
"strand": true,
"transcript": "NM_001318042.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 954,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9363,
"cdna_start": null,
"cds_end": null,
"cds_length": 2865,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374126.10",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001318042.2",
"protein_coding": true,
"protein_id": "ENSP00000363241.5",
"strand": true,
"transcript": "ENST00000374126.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 921,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9289,
"cdna_start": null,
"cds_end": null,
"cds_length": 2766,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000615615.4",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483198.1",
"strand": true,
"transcript": "ENST00000615615.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1022,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": null,
"cds_end": null,
"cds_length": 3069,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968409.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638468.1",
"strand": true,
"transcript": "ENST00000968409.1",
"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": 3099,
"cdna_start": null,
"cds_end": null,
"cds_length": 3027,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901602.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571661.1",
"strand": true,
"transcript": "ENST00000901602.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 974,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": null,
"cds_end": null,
"cds_length": 2925,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968403.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638462.1",
"strand": true,
"transcript": "ENST00000968403.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 973,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3031,
"cdna_start": null,
"cds_end": null,
"cds_length": 2922,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968401.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638460.1",
"strand": true,
"transcript": "ENST00000968401.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 969,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3002,
"cdna_start": null,
"cds_end": null,
"cds_length": 2910,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901600.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571659.1",
"strand": true,
"transcript": "ENST00000901600.1",
"transcript_support_level": null
},
{
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"aa_length": 968,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": null,
"cds_end": null,
"cds_length": 2907,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901593.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571652.1",
"strand": true,
"transcript": "ENST00000901593.1",
"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": 2886,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901588.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571647.1",
"strand": true,
"transcript": "ENST00000901588.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000968396.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000638455.1",
"strand": true,
"transcript": "ENST00000968396.1",
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},
{
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"biotype": "protein_coding",
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],
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"feature": "ENST00000901592.1",
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"protein_coding": true,
"protein_id": "ENSP00000571651.1",
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},
{
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"protein_id": "ENSP00000638459.1",
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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": 15,
"exon_rank": null,
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"feature": "ENST00000901577.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000571636.1",
"strand": true,
"transcript": "ENST00000901577.1",
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},
{
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],
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"feature": "ENST00000901601.1",
"gene_hgnc_id": 29416,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000571660.1",
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"transcript": "ENST00000901601.1",
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},
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000968399.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000638458.1",
"strand": true,
"transcript": "ENST00000968399.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000968408.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
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"mane_plus": null,
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"transcript": "ENST00000968408.1",
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},
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],
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"feature": "ENST00000901595.1",
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"strand": true,
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},
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],
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"feature": "ENST00000968395.1",
"gene_hgnc_id": 29416,
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},
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000928183.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000598242.1",
"strand": true,
"transcript": "ENST00000928183.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
"cds_length": 2775,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901603.1",
"gene_hgnc_id": 29416,
"gene_symbol": "ZNF618",
"hgvs_c": "c.77+9052G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571662.1",
"strand": true,
"transcript": "ENST00000901603.1",
"transcript_support_level": null
},
{
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