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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: 15-90798346-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90798346&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90798346,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_000057.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3358+9T>C",
"hgvs_p": null,
"transcript": "NM_000057.4",
"protein_id": "NP_000048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1417,
"cds_start": null,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355112.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000057.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3358+9T>C",
"hgvs_p": null,
"transcript": "ENST00000355112.8",
"protein_id": "ENSP00000347232.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1417,
"cds_start": null,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000057.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355112.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3358+9T>C",
"hgvs_p": null,
"transcript": "ENST00000560509.5",
"protein_id": "ENSP00000454158.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1286,
"cds_start": null,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560509.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "n.*2282+9T>C",
"hgvs_p": null,
"transcript": "ENST00000559724.5",
"protein_id": "ENSP00000453359.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000559724.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3451+9T>C",
"hgvs_p": null,
"transcript": "ENST00000936452.1",
"protein_id": "ENSP00000606511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1448,
"cds_start": null,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3412+9T>C",
"hgvs_p": null,
"transcript": "ENST00000936450.1",
"protein_id": "ENSP00000606509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1435,
"cds_start": null,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3358+9T>C",
"hgvs_p": null,
"transcript": "NM_001287246.2",
"protein_id": "NP_001274175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1417,
"cds_start": null,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287246.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3358+9T>C",
"hgvs_p": null,
"transcript": "ENST00000680772.1",
"protein_id": "ENSP00000506117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1417,
"cds_start": null,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680772.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3358+9T>C",
"hgvs_p": null,
"transcript": "ENST00000936448.1",
"protein_id": "ENSP00000606507.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1417,
"cds_start": null,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936448.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3358+9T>C",
"hgvs_p": null,
"transcript": "ENST00000936451.1",
"protein_id": "ENSP00000606510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1417,
"cds_start": null,
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"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936451.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3358+9T>C",
"hgvs_p": null,
"transcript": "ENST00000936455.1",
"protein_id": "ENSP00000606514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936455.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 17,
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"gene_symbol": "BLM",
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"hgvs_c": "c.3355+9T>C",
"hgvs_p": null,
"transcript": "ENST00000936446.1",
"protein_id": "ENSP00000606505.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000936446.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "BLM",
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"hgvs_c": "c.3358+9T>C",
"hgvs_p": null,
"transcript": "ENST00000648453.1",
"protein_id": "ENSP00000497646.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 16,
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"gene_symbol": "BLM",
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"hgvs_c": "c.3259+9T>C",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3244+9T>C",
"hgvs_p": null,
"transcript": "ENST00000891949.1",
"protein_id": "ENSP00000562008.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "BLM",
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"hgvs_c": "c.3358+9T>C",
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"transcript": "ENST00000681142.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3358+9T>C",
"hgvs_p": null,
"transcript": "NM_001287247.2",
"protein_id": "NP_001274176.1",
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"feature": "NM_001287247.2"
},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.2770+9T>C",
"hgvs_p": null,
"transcript": "ENST00000936445.1",
"protein_id": "ENSP00000606504.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "BLM",
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"hgvs_c": "c.2701+9T>C",
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},
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],
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"intron_rank": 17,
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"gene_symbol": "BLM",
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"hgvs_c": "c.2233+9T>C",
"hgvs_p": null,
"transcript": "NM_001287248.2",
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},
{
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"strand": true,
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],
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"intron_rank": 9,
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"gene_symbol": "BLM",
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"hgvs_c": "c.1783+9T>C",
"hgvs_p": null,
"transcript": "ENST00000936453.1",
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"biotype": "protein_coding",
"feature": "ENST00000936453.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1088-10791T>C",
"hgvs_p": null,
"transcript": "ENST00000936449.1",
"protein_id": "ENSP00000606508.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 529,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936449.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 12,
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],
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": -0.5799999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.623,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_000057.4",
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"effects": [
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"inheritance_mode": "AR,AD",
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{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000774880.1",
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"intron_variant"
],
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}
],
"clinvar_disease": "Bloom syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Bloom syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}