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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: 15-90815145-TCC-AGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90815145&ref=TCC&alt=AGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "BLM",
"hgnc_id": 1058,
"hgvs_c": "c.4120_4122delTCCinsAGT",
"hgvs_p": "p.1375",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_000057.4",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000287061",
"hgnc_id": null,
"hgvs_c": "n.398_400delGGAinsACT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000656405.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP7",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGT",
"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": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "S",
"aa_start": 1374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 4219,
"cds_end": null,
"cds_length": 4254,
"cds_start": 4120,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000057.4",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.4120_4122delTCCinsAGT",
"hgvs_p": "p.1375",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355112.8",
"protein_coding": true,
"protein_id": "NP_000048.1",
"strand": true,
"transcript": "NM_000057.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "S",
"aa_start": 1374,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 4219,
"cds_end": null,
"cds_length": 4254,
"cds_start": 4120,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355112.8",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.4120_4122delTCCinsAGT",
"hgvs_p": "p.1375",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000057.4",
"protein_coding": true,
"protein_id": "ENSP00000347232.3",
"strand": true,
"transcript": "ENST00000355112.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "S",
"aa_start": 1243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3966,
"cdna_start": 3778,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3727,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000560509.5",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.3727_3729delTCCinsAGT",
"hgvs_p": "p.1244",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454158.1",
"strand": true,
"transcript": "ENST00000560509.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4510,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000559724.5",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "n.*3044_*3046delTCCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000453359.1",
"strand": true,
"transcript": "ENST00000559724.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4510,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000559724.5",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "n.*3044_*3046delTCCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000453359.1",
"strand": true,
"transcript": "ENST00000559724.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1448,
"aa_ref": "S",
"aa_start": 1405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4596,
"cdna_start": 4282,
"cds_end": null,
"cds_length": 4347,
"cds_start": 4213,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936452.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.4213_4215delTCCinsAGT",
"hgvs_p": "p.1406",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606511.1",
"strand": true,
"transcript": "ENST00000936452.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1435,
"aa_ref": "S",
"aa_start": 1392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4584,
"cdna_start": 4270,
"cds_end": null,
"cds_length": 4308,
"cds_start": 4174,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936450.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.4174_4176delTCCinsAGT",
"hgvs_p": "p.1393",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606509.1",
"strand": true,
"transcript": "ENST00000936450.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "S",
"aa_start": 1374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5350,
"cdna_start": 4329,
"cds_end": null,
"cds_length": 4254,
"cds_start": 4120,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287246.2",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.4120_4122delTCCinsAGT",
"hgvs_p": "p.1375",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274175.1",
"strand": true,
"transcript": "NM_001287246.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "S",
"aa_start": 1374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5033,
"cdna_start": 4196,
"cds_end": null,
"cds_length": 4254,
"cds_start": 4120,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680772.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.4120_4122delTCCinsAGT",
"hgvs_p": "p.1375",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506117.1",
"strand": true,
"transcript": "ENST00000680772.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "S",
"aa_start": 1374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4615,
"cdna_start": 4301,
"cds_end": null,
"cds_length": 4254,
"cds_start": 4120,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936448.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.4120_4122delTCCinsAGT",
"hgvs_p": "p.1375",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606507.1",
"strand": true,
"transcript": "ENST00000936448.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "S",
"aa_start": 1374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4688,
"cdna_start": 4371,
"cds_end": null,
"cds_length": 4254,
"cds_start": 4120,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936451.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.4120_4122delTCCinsAGT",
"hgvs_p": "p.1375",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606510.1",
"strand": true,
"transcript": "ENST00000936451.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "S",
"aa_start": 1374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4503,
"cdna_start": 4280,
"cds_end": null,
"cds_length": 4254,
"cds_start": 4120,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936455.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.4120_4122delTCCinsAGT",
"hgvs_p": "p.1375",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606514.1",
"strand": true,
"transcript": "ENST00000936455.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1416,
"aa_ref": "S",
"aa_start": 1373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5222,
"cdna_start": 4214,
"cds_end": null,
"cds_length": 4251,
"cds_start": 4117,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936446.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.4117_4119delTCCinsAGT",
"hgvs_p": "p.1374",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606505.1",
"strand": true,
"transcript": "ENST00000936446.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1384,
"aa_ref": "S",
"aa_start": 1341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 4116,
"cds_end": null,
"cds_length": 4155,
"cds_start": 4021,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936454.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.4021_4023delTCCinsAGT",
"hgvs_p": "p.1342",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606513.1",
"strand": true,
"transcript": "ENST00000936454.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1379,
"aa_ref": "S",
"aa_start": 1336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4328,
"cdna_start": 4106,
"cds_end": null,
"cds_length": 4140,
"cds_start": 4006,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891949.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.4006_4008delTCCinsAGT",
"hgvs_p": "p.1337",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562008.1",
"strand": true,
"transcript": "ENST00000891949.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "S",
"aa_start": 1243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4847,
"cdna_start": 3826,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3727,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287247.2",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.3727_3729delTCCinsAGT",
"hgvs_p": "p.1244",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274176.1",
"strand": true,
"transcript": "NM_001287247.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1221,
"aa_ref": "S",
"aa_start": 1178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4646,
"cdna_start": 3628,
"cds_end": null,
"cds_length": 3666,
"cds_start": 3532,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936445.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.3532_3534delTCCinsAGT",
"hgvs_p": "p.1179",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606504.1",
"strand": true,
"transcript": "ENST00000936445.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "S",
"aa_start": 1155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 3568,
"cds_end": null,
"cds_length": 3597,
"cds_start": 3463,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936447.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.3463_3465delTCCinsAGT",
"hgvs_p": "p.1156",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606506.1",
"strand": true,
"transcript": "ENST00000936447.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "S",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5406,
"cdna_start": 4385,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2995,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287248.2",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2995_2997delTCCinsAGT",
"hgvs_p": "p.1000",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274177.1",
"strand": true,
"transcript": "NM_001287248.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 892,
"aa_ref": "S",
"aa_start": 849,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2862,
"cdna_start": 2641,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2545,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936453.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2545_2547delTCCinsAGT",
"hgvs_p": "p.850",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606512.1",
"strand": true,
"transcript": "ENST00000936453.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "S",
"aa_start": 486,
"biotype": "protein_coding",
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