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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: 15-82854740-CC-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82854740&ref=CC&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HOMER2",
"hgnc_id": 17513,
"hgvs_c": "c.587_588delGGinsCT",
"hgvs_p": "p.Arg196Pro",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_199330.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1032,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004839.4",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.554_555delGGinsCT",
"hgvs_p": "p.Arg185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000450735.7",
"protein_coding": true,
"protein_id": "NP_004830.2",
"strand": false,
"transcript": "NM_004839.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1032,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000450735.7",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.554_555delGGinsCT",
"hgvs_p": "p.Arg185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004839.4",
"protein_coding": true,
"protein_id": "ENSP00000407634.2",
"strand": false,
"transcript": "ENST00000450735.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1920,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1095,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855505.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.617_618delGGinsCT",
"hgvs_p": "p.Arg206Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525564.1",
"strand": false,
"transcript": "ENST00000855505.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 773,
"cds_end": null,
"cds_length": 1065,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_199330.3",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.587_588delGGinsCT",
"hgvs_p": "p.Arg196Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_955362.1",
"strand": false,
"transcript": "NM_199330.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1065,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000304231.12",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.587_588delGGinsCT",
"hgvs_p": "p.Arg196Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000305632.8",
"strand": false,
"transcript": "ENST00000304231.12",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4120,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1065,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960877.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.587_588delGGinsCT",
"hgvs_p": "p.Arg196Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630936.1",
"strand": false,
"transcript": "ENST00000960877.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4397,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1032,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855499.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.554_555delGGinsCT",
"hgvs_p": "p.Arg185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525558.1",
"strand": false,
"transcript": "ENST00000855499.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1032,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855501.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.554_555delGGinsCT",
"hgvs_p": "p.Arg185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525559.1",
"strand": false,
"transcript": "ENST00000855501.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 772,
"cds_end": null,
"cds_length": 954,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960879.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.587_588delGGinsCT",
"hgvs_p": "p.Arg196Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630938.1",
"strand": false,
"transcript": "ENST00000960879.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 312,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 645,
"cds_end": null,
"cds_length": 939,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855504.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.461_462delGGinsCT",
"hgvs_p": "p.Arg154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525562.1",
"strand": false,
"transcript": "ENST00000855504.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 312,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1575,
"cdna_start": 639,
"cds_end": null,
"cds_length": 939,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960878.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.461_462delGGinsCT",
"hgvs_p": "p.Arg154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630937.1",
"strand": false,
"transcript": "ENST00000960878.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 310,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 619,
"cds_end": null,
"cds_length": 933,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960880.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.455_456delGGinsCT",
"hgvs_p": "p.Arg152Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630939.1",
"strand": false,
"transcript": "ENST00000960880.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 612,
"cds_end": null,
"cds_length": 900,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855502.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.422_423delGGinsCT",
"hgvs_p": "p.Arg141Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525561.1",
"strand": false,
"transcript": "ENST00000855502.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 184,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 555,
"cdna_start": 312,
"cds_end": null,
"cds_length": 555,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558817.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.311_312delGGinsCT",
"hgvs_p": "p.Arg104Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454125.1",
"strand": false,
"transcript": "ENST00000558817.1",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7765,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1095,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006720775.4",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.617_618delGGinsCT",
"hgvs_p": "p.Arg206Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720838.1",
"strand": false,
"transcript": "XM_006720775.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4733,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1095,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522232.3",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.617_618delGGinsCT",
"hgvs_p": "p.Arg206Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520534.1",
"strand": false,
"transcript": "XM_011522232.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1836,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1089,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522233.4",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.611_612delGGinsCT",
"hgvs_p": "p.Arg204Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520535.1",
"strand": false,
"transcript": "XM_011522233.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1065,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006720776.5",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.587_588delGGinsCT",
"hgvs_p": "p.Arg196Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720839.1",
"strand": false,
"transcript": "XM_006720776.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7442,
"cdna_start": 773,
"cds_end": null,
"cds_length": 1065,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433355.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.587_588delGGinsCT",
"hgvs_p": "p.Arg196Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289311.1",
"strand": false,
"transcript": "XM_047433355.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4700,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1062,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433356.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.584_585delGGinsCT",
"hgvs_p": "p.Arg195Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289312.1",
"strand": false,
"transcript": "XM_047433356.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7732,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1062,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433357.1",
"gene_hgnc_id": 17513,
"gene_symbol": "HOMER2",
"hgvs_c": "c.584_585delGGinsCT",
"hgvs_p": "p.Arg195Pro",
"intron_rank": null,
"intron_rank_end": null,
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