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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: 1-81777398-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=81777398&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ADGRL2",
"hgnc_id": 18582,
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001366003.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 30672,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.94,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1474,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5293,
"cdna_start": null,
"cds_end": null,
"cds_length": 4425,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370725.5",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359760.1",
"strand": true,
"transcript": "ENST00000370725.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1461,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5254,
"cdna_start": null,
"cds_end": null,
"cds_length": 4386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370723.5",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359758.1",
"strand": true,
"transcript": "ENST00000370723.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1459,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6302,
"cdna_start": null,
"cds_end": null,
"cds_length": 4380,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370728.5",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359763.1",
"strand": true,
"transcript": "ENST00000370728.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1431,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5164,
"cdna_start": null,
"cds_end": null,
"cds_length": 4296,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370727.5",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359762.1",
"strand": true,
"transcript": "ENST00000370727.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1416,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6173,
"cdna_start": null,
"cds_end": null,
"cds_length": 4251,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370730.5",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359765.1",
"strand": true,
"transcript": "ENST00000370730.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1403,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4674,
"cdna_start": null,
"cds_end": null,
"cds_length": 4212,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359929.7",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353006.2",
"strand": true,
"transcript": "ENST00000359929.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1384,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5023,
"cdna_start": null,
"cds_end": null,
"cds_length": 4155,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370721.5",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359756.1",
"strand": true,
"transcript": "ENST00000370721.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7994,
"cdna_start": null,
"cds_end": null,
"cds_length": 4392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366003.2",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352932.1",
"strand": true,
"transcript": "NM_001366003.2",
"transcript_support_level": null
},
{
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"aa_length": 1463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8116,
"cdna_start": null,
"cds_end": null,
"cds_length": 4392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366004.2",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352933.1",
"strand": true,
"transcript": "NM_001366004.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 4392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393349.1",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380278.1",
"strand": true,
"transcript": "NM_001393349.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000855565.1",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000525624.1",
"strand": true,
"transcript": "ENST00000855565.1",
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},
{
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"canonical": false,
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000941333.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611392.1",
"strand": true,
"transcript": "ENST00000941333.1",
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},
{
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"feature": "ENST00000941334.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611393.1",
"strand": true,
"transcript": "ENST00000941334.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000941336.1",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611395.1",
"strand": true,
"transcript": "ENST00000941336.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000941337.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611396.1",
"strand": true,
"transcript": "ENST00000941337.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000941339.1",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611398.1",
"strand": true,
"transcript": "ENST00000941339.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
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"feature": "ENST00000941340.1",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
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"protein_coding": true,
"protein_id": "ENSP00000611399.1",
"strand": true,
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},
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],
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"feature": "NM_001297704.3",
"gene_hgnc_id": 18582,
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"protein_id": "NP_001284633.1",
"strand": true,
"transcript": "NM_001297704.3",
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},
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],
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"feature": "ENST00000941335.1",
"gene_hgnc_id": 18582,
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"strand": true,
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},
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"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000941338.1",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611397.1",
"strand": true,
"transcript": "ENST00000941338.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3675,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366008.2",
"gene_hgnc_id": 18582,
"gene_symbol": "ADGRL2",
"hgvs_c": "c.-101+15546A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352937.1",
"strand": true,
"transcript": "NM_001366008.2",
"transcript_support_level": null
},
{
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