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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: 19-50417931-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50417931&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "POLD1",
"hgnc_id": 9175,
"hgvs_c": "c.3386G>A",
"hgvs_p": "p.Gly1129Glu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001308632.1",
"verdict": "Likely_benign"
},
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000142539",
"hgnc_id": null,
"hgvs_c": "c.425+662G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -1,
"transcript": "ENST00000599632.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6",
"acmg_score": -1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0897,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "19",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " 10, susceptibility to,Colorectal cancer,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08670151233673096,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": 3353,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_002691.4",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"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": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": 3353,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000440232.7",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"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": "E",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "G",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 3431,
"cds_end": null,
"cds_length": 3402,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000595904.6",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3386G>A",
"hgvs_p": "p.Gly1129Glu",
"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": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 3380,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000599857.7",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"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": null,
"aa_end": null,
"aa_length": 396,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1265,
"cdna_start": null,
"cds_end": null,
"cds_length": 1191,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000599632.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000142539",
"hgvs_c": "c.425+662G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473233.1",
"strand": true,
"transcript": "ENST00000599632.1",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "G",
"aa_start": 1139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 3498,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3416,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000935846.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3416G>A",
"hgvs_p": "p.Gly1139Glu",
"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": "E",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "G",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 3386,
"cds_end": null,
"cds_length": 3402,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001308632.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3386G>A",
"hgvs_p": "p.Gly1129Glu",
"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": "E",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "G",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 3431,
"cds_end": null,
"cds_length": 3402,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000869782.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3386G>A",
"hgvs_p": "p.Gly1129Glu",
"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": "E",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "G",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3729,
"cdna_start": 3646,
"cds_end": null,
"cds_length": 3402,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000969650.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3386G>A",
"hgvs_p": "p.Gly1129Glu",
"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": "E",
"aa_end": null,
"aa_length": 1109,
"aa_ref": "G",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": 3314,
"cds_end": null,
"cds_length": 3330,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000644560.2",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Gly1105Glu",
"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": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 3380,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001256849.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"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": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 3498,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001438212.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"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": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 3479,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001438213.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"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
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 3687,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000593887.2",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"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": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 3484,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000601098.6",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472600.2",
"strand": true,
"transcript": "ENST00000601098.6",
"transcript_support_level": 3
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 3372,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000687454.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"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": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": 3467,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000869780.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"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": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 3545,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000869783.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539842.1",
"strand": true,
"transcript": "ENST00000869783.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": 4344,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000935843.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605902.1",
"strand": true,
"transcript": "ENST00000935843.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "G",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3643,
"cdna_start": 3560,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3308,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000935844.1",
"gene_hgnc_id": 9175,
"gene_symbol": "POLD1",
"hgvs_c": "c.3308G>A",
"hgvs_p": "p.Gly1103Glu",
"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
},
{
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