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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: 8-11845645-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11845645&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 11845645,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000353047.11",
"consequences": [
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.922+16C>G",
"hgvs_p": null,
"transcript": "NM_001908.5",
"protein_id": "NP_001899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": -4,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": "ENST00000353047.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.922+16C>G",
"hgvs_p": null,
"transcript": "ENST00000353047.11",
"protein_id": "ENSP00000345672.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": -4,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": "NM_001908.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.922+16C>G",
"hgvs_p": null,
"transcript": "ENST00000533455.6",
"protein_id": "ENSP00000432244.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": -4,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "n.*470+16C>G",
"hgvs_p": null,
"transcript": "ENST00000531551.5",
"protein_id": "ENSP00000436456.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.560C>G",
"hgvs_p": "p.Pro187Arg",
"transcript": "ENST00000678067.1",
"protein_id": "ENSP00000503330.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 192,
"cds_start": 560,
"cds_end": null,
"cds_length": 579,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.1018+16C>G",
"hgvs_p": null,
"transcript": "ENST00000505496.7",
"protein_id": "ENSP00000435650.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.1018+16C>G",
"hgvs_p": null,
"transcript": "ENST00000526195.6",
"protein_id": "ENSP00000436627.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.973+16C>G",
"hgvs_p": null,
"transcript": "ENST00000678598.1",
"protein_id": "ENSP00000503734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": -4,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.922+16C>G",
"hgvs_p": null,
"transcript": "NM_001384714.1",
"protein_id": "NP_001371643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": -4,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.922+16C>G",
"hgvs_p": null,
"transcript": "NM_001384723.1",
"protein_id": "NP_001371652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": -4,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.922+16C>G",
"hgvs_p": null,
"transcript": "NM_001384724.1",
"protein_id": "NP_001371653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
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"gene_symbol": "CTSB",
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"hgvs_c": "c.922+16C>G",
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"transcript": "NM_001384725.1",
"protein_id": "NP_001371654.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.922+16C>G",
"hgvs_p": null,
"transcript": "NM_001384726.1",
"protein_id": "NP_001371655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
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"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.922+16C>G",
"hgvs_p": null,
"transcript": "NM_001384727.1",
"protein_id": "NP_001371656.1",
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},
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],
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"hgvs_c": "c.922+16C>G",
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"transcript": "NM_001384728.1",
"protein_id": "NP_001371657.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.922+16C>G",
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"transcript": "NM_147780.4",
"protein_id": "NP_680090.1",
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},
{
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],
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"gene_symbol": "CTSB",
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"hgvs_c": "c.922+16C>G",
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"transcript": "NM_147781.4",
"protein_id": "NP_680091.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.922+16C>G",
"hgvs_p": null,
"transcript": "NM_147782.4",
"protein_id": "NP_680092.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
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"gene_symbol": "CTSB",
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"hgvs_c": "c.922+16C>G",
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"transcript": "NM_147783.4",
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},
{
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],
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"transcript": "ENST00000345125.8",
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},
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"strand": false,
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],
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"intron_rank": 10,
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
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"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.922+16C>G",
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"transcript": "ENST00000527215.7",
"protein_id": "ENSP00000433379.3",
"transcript_support_level": 4,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.922+16C>G",
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"transcript": "ENST00000527243.6",
"protein_id": "ENSP00000434725.2",
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"aa_start": null,
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},
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000353047.11",
"gene_symbol": "CTSB",
"hgnc_id": 2527,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.922+16C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}