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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: 19-50407105-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50407105&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "POLD1",
"hgnc_id": 9175,
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_001308632.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 3324,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_002691.4",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000440232.7",
"protein_coding": true,
"protein_id": "NP_002682.2",
"strand": true,
"transcript": "NM_002691.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 3324,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000440232.7",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002691.4",
"protein_coding": true,
"protein_id": "ENSP00000406046.1",
"strand": true,
"transcript": "ENST00000440232.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 3402,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000595904.6",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472445.1",
"strand": true,
"transcript": "ENST00000595904.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 3324,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000599857.7",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473052.1",
"strand": true,
"transcript": "ENST00000599857.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "T",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 1807,
"cds_end": null,
"cds_length": 3432,
"cds_start": 1725,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000935846.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1725T>A",
"hgvs_p": "p.Thr575Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605905.1",
"strand": true,
"transcript": "ENST00000935846.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 3402,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001308632.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295561.1",
"strand": true,
"transcript": "NM_001308632.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 3402,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000869782.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539841.1",
"strand": true,
"transcript": "ENST00000869782.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3729,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 3402,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000969650.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639709.1",
"strand": true,
"transcript": "ENST00000969650.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1109,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 3330,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000644560.2",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495618.2",
"strand": true,
"transcript": "ENST00000644560.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 3324,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001256849.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243778.1",
"strand": true,
"transcript": "NM_001256849.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 1807,
"cds_end": null,
"cds_length": 3324,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001438212.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425141.1",
"strand": true,
"transcript": "NM_001438212.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 3324,
"cds_start": 1617,
"consequences": [
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],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001438213.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425142.1",
"strand": true,
"transcript": "NM_001438213.1",
"transcript_support_level": null
},
{
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"aa_length": 1107,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 1996,
"cds_end": null,
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"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000593887.2",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472607.2",
"strand": true,
"transcript": "ENST00000593887.2",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 3324,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000601098.6",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472600.2",
"strand": true,
"transcript": "ENST00000601098.6",
"transcript_support_level": 3
},
{
"aa_alt": "T",
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 3324,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000687454.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510052.1",
"strand": true,
"transcript": "ENST00000687454.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1107,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": 1776,
"cds_end": null,
"cds_length": 3324,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000869780.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539839.1",
"strand": true,
"transcript": "ENST00000869780.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 29,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000869783.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000539842.1",
"strand": true,
"transcript": "ENST00000869783.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 2653,
"cds_end": null,
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"consequences": [
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],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000935843.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605902.1",
"strand": true,
"transcript": "ENST00000935843.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
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"exon_rank": 14,
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"feature": "ENST00000935844.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605903.1",
"strand": true,
"transcript": "ENST00000935844.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 1807,
"cds_end": null,
"cds_length": 3324,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000935847.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Thr539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605906.1",
"strand": true,
"transcript": "ENST00000935847.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3589,
"cdna_start": 1815,
"cds_end": null,
"cds_length": 3324,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
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