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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: 5-146878727-AGCTGCTGCTGCTGCTGCT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=146878727&ref=AGCTGCTGCTGCTGCTGCT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 146878727,
"ref": "AGCTGCTGCTGCTGCTGCT",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_181675.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-279_-262delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "NM_181675.4",
"protein_id": "NP_858061.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394411.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181675.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-279_-262delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000394411.9",
"protein_id": "ENSP00000377933.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181675.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394411.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-792_-775delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000453001.5",
"protein_id": "ENSP00000398779.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": null,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453001.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.75-550_75-533delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000394414.5",
"protein_id": "ENSP00000377936.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": null,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394414.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "n.150_167delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000530902.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000530902.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-674_-657delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "NM_001428277.1",
"protein_id": "NP_001415206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001428277.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-169_-152delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "NM_001428279.1",
"protein_id": "NP_001415208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001428279.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-792_-775delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "NM_001271948.2",
"protein_id": "NP_001258877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": null,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271948.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.75-550_75-533delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "NM_181674.3",
"protein_id": "NP_858060.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": null,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181674.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.51-550_51-533delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "NM_001271900.2",
"protein_id": "NP_001258829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": null,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271900.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.51-550_51-533delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000394413.7",
"protein_id": "ENSP00000377935.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": null,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394413.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.89-177603_89-177586delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "NM_001271899.1",
"protein_id": "NP_001258828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271899.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.89-177603_89-177586delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000504198.5",
"protein_id": "ENSP00000421396.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504198.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.79+176920_79+176937delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "NM_181676.3",
"protein_id": "NP_858062.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181676.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.79+176920_79+176937delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000336640.10",
"protein_id": "ENSP00000336591.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336640.10"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-124-550_-124-533delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000885029.1",
"protein_id": "ENSP00000555088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885029.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-124-550_-124-533delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000885030.1",
"protein_id": "ENSP00000555089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885030.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-124-550_-124-533delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000885031.1",
"protein_id": "ENSP00000555090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
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"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885031.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-124-550_-124-533delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000885032.1",
"protein_id": "ENSP00000555091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885032.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-124-550_-124-533delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000885033.1",
"protein_id": "ENSP00000555092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885033.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-125+387_-125+404delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
"transcript": "ENST00000928166.1",
"protein_id": "ENSP00000598225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928166.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.-124-550_-124-533delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null,
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_181675.4",
"gene_symbol": "PPP2R2B",
"hgnc_id": 9305,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-279_-262delAGCAGCAGCAGCAGCAGC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}