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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: 2-171448700-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171448700&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "DCAF17",
"hgnc_id": 25784,
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_025000.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.62,
"chr": "2",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Woodhouse-Sakati syndrome",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 520,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5853,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1563,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_025000.4",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375255.8",
"protein_coding": true,
"protein_id": "NP_079276.2",
"strand": true,
"transcript": "NM_025000.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 520,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5853,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1563,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000375255.8",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025000.4",
"protein_coding": true,
"protein_id": "ENSP00000364404.3",
"strand": true,
"transcript": "ENST00000375255.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 537,
"aa_ref": "S",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2418,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1614,
"cds_start": 392,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966668.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.392C>A",
"hgvs_p": "p.Ser131*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636727.1",
"strand": true,
"transcript": "ENST00000966668.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 517,
"aa_ref": "S",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5597,
"cdna_start": 440,
"cds_end": null,
"cds_length": 1554,
"cds_start": 332,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000907633.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.332C>A",
"hgvs_p": "p.Ser111*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577692.1",
"strand": true,
"transcript": "ENST00000907633.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 509,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5729,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1530,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917794.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587853.1",
"strand": true,
"transcript": "ENST00000917794.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 499,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2228,
"cdna_start": 649,
"cds_end": null,
"cds_length": 1500,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000907636.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577695.1",
"strand": true,
"transcript": "ENST00000907636.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 470,
"aa_ref": "S",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5654,
"cdna_start": 697,
"cds_end": null,
"cds_length": 1413,
"cds_start": 392,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000907632.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.392C>A",
"hgvs_p": "p.Ser131*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577691.1",
"strand": true,
"transcript": "ENST00000907632.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 453,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5652,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1362,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001164821.2",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158293.1",
"strand": true,
"transcript": "NM_001164821.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 453,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5623,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1362,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000539783.5",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442238.1",
"strand": true,
"transcript": "ENST00000539783.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 442,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5559,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1329,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917792.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587851.1",
"strand": true,
"transcript": "ENST00000917792.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 437,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5368,
"cdna_start": 457,
"cds_end": null,
"cds_length": 1314,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917795.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587854.1",
"strand": true,
"transcript": "ENST00000917795.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 432,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1299,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000907635.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577694.1",
"strand": true,
"transcript": "ENST00000907635.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 422,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 583,
"cds_end": null,
"cds_length": 1269,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000907634.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577693.1",
"strand": true,
"transcript": "ENST00000907634.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 402,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5446,
"cdna_start": 643,
"cds_end": null,
"cds_length": 1209,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917791.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587850.1",
"strand": true,
"transcript": "ENST00000917791.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 390,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5374,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1173,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917793.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587852.1",
"strand": true,
"transcript": "ENST00000917793.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 373,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5364,
"cdna_start": 645,
"cds_end": null,
"cds_length": 1122,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917790.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587849.1",
"strand": true,
"transcript": "ENST00000917790.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 509,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5820,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1530,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011511881.2",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510183.1",
"strand": true,
"transcript": "XM_011511881.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 499,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5790,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1500,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011511882.2",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510184.1",
"strand": true,
"transcript": "XM_011511882.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 442,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5619,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1329,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047445911.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301867.1",
"strand": true,
"transcript": "XM_047445911.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 433,
"aa_ref": "S",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5597,
"cdna_start": 437,
"cds_end": null,
"cds_length": 1302,
"cds_start": 80,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006712768.2",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.80C>A",
"hgvs_p": "p.Ser27*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712831.1",
"strand": true,
"transcript": "XM_006712768.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 432,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5589,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1299,
"cds_start": 341,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047445912.1",
"gene_hgnc_id": 25784,
"gene_symbol": "DCAF17",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ser114*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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