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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: 2-218675519-TCTT-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218675519&ref=TCTT&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "STK36",
"hgnc_id": 17209,
"hgvs_c": "c.434+67_434+68delTT",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_015690.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_score": -10,
"allele_count_reference_population": 95448,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1315,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": null,
"cds_end": null,
"cds_length": 3948,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015690.5",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.434+67_434+68delTT",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000295709.8",
"protein_coding": true,
"protein_id": "NP_056505.2",
"strand": true,
"transcript": "NM_015690.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1315,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": null,
"cds_end": null,
"cds_length": 3948,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000295709.8",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.434+48_434+49delTT",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015690.5",
"protein_coding": true,
"protein_id": "ENSP00000295709.3",
"strand": true,
"transcript": "ENST00000295709.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1294,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4821,
"cdna_start": null,
"cds_end": null,
"cds_length": 3885,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392105.7",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.434+48_434+49delTT",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375954.3",
"strand": true,
"transcript": "ENST00000392105.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1315,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": null,
"cds_end": null,
"cds_length": 3948,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369423.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.434+67_434+68delTT",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356352.1",
"strand": true,
"transcript": "NM_001369423.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1315,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4721,
"cdna_start": null,
"cds_end": null,
"cds_length": 3948,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000440309.5",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.434+48_434+49delTT",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394095.1",
"strand": true,
"transcript": "ENST00000440309.5",
"transcript_support_level": 5
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5012,
"cdna_start": null,
"cds_end": null,
"cds_length": 3948,
"cds_start": null,
"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000925598.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.434+48_434+49delTT",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595657.1",
"strand": true,
"transcript": "ENST00000925598.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": null,
"cds_end": null,
"cds_length": 3945,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870277.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.434+48_434+49delTT",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540336.1",
"strand": true,
"transcript": "ENST00000870277.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4878,
"cdna_start": null,
"cds_end": null,
"cds_length": 3921,
"cds_start": null,
"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000925594.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.434+48_434+49delTT",
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},
{
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],
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"feature": "NM_001243313.2",
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"protein_id": "NP_001230242.1",
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},
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],
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"feature": "ENST00000925597.1",
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"feature": "ENST00000925596.1",
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},
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],
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"feature": "XM_017003804.3",
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