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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: 7-156791542-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=156791542&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LMBR1",
"hgnc_id": 13243,
"hgvs_c": "c.423+4847T>G",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 3,
"score": 2,
"transcript": "NM_001350953.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5,BP4",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "7",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Polydactyly of a triphalangeal thumb",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.30000001192092896,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7950,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022458.4",
"gene_hgnc_id": 13243,
"gene_symbol": "LMBR1",
"hgvs_c": "c.423+4847T>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000353442.10",
"protein_coding": true,
"protein_id": "NP_071903.2",
"strand": false,
"transcript": "NM_022458.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7950,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000353442.10",
"gene_hgnc_id": 13243,
"gene_symbol": "LMBR1",
"hgvs_c": "c.423+4847T>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022458.4",
"protein_coding": true,
"protein_id": "ENSP00000326604.7",
"strand": false,
"transcript": "ENST00000353442.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 529,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": null,
"cds_end": null,
"cds_length": 1590,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000415428.5",
"gene_hgnc_id": 13243,
"gene_symbol": "LMBR1",
"hgvs_c": "c.417+4847T>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408256.1",
"strand": false,
"transcript": "ENST00000415428.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 531,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8073,
"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350953.2",
"gene_hgnc_id": 13243,
"gene_symbol": "LMBR1",
"hgvs_c": "c.423+4847T>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337882.1",
"strand": false,
"transcript": "NM_001350953.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 512,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": null,
"cds_end": null,
"cds_length": 1539,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875405.1",
"gene_hgnc_id": 13243,
"gene_symbol": "LMBR1",
"hgvs_c": "c.423+4847T>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545464.1",
"strand": false,
"transcript": "ENST00000875405.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 501,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2829,
"cdna_start": null,
"cds_end": null,
"cds_length": 1506,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875403.1",
"gene_hgnc_id": 13243,
"gene_symbol": "LMBR1",
"hgvs_c": "c.456+4847T>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545462.1",
"strand": false,
"transcript": "ENST00000875403.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3551,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956573.1",
"gene_hgnc_id": 13243,
"gene_symbol": "LMBR1",
"hgvs_c": "c.423+4847T>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626632.1",
"strand": false,
"transcript": "ENST00000956573.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 477,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7911,
"cdna_start": null,
"cds_end": null,
"cds_length": 1434,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363409.2",
"gene_hgnc_id": 13243,
"gene_symbol": "LMBR1",
"hgvs_c": "c.423+4847T>G",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350338.1",
"strand": false,
"transcript": "NM_001363409.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2783,
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"cds_end": null,
"cds_length": 1434,
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"consequences": [
"intron_variant"
],
"exon_count": 17,
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"feature": "ENST00000956576.1",
"gene_hgnc_id": 13243,
"gene_symbol": "LMBR1",
"hgvs_c": "c.423+4847T>G",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000626635.1",
"strand": false,
"transcript": "ENST00000956576.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 17,
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"feature": "ENST00000875400.1",
"gene_hgnc_id": 13243,
"gene_symbol": "LMBR1",
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},
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],
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"feature": "ENST00000875404.1",
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},
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},
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},
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"feature": "ENST00000956575.1",
"gene_hgnc_id": 13243,
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},
{
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"feature": "ENST00000931565.1",
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"protein_id": "ENSP00000601624.1",
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},
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],
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"feature": "NM_001363410.2",
"gene_hgnc_id": 13243,
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"protein_coding": true,
"protein_id": "NP_001350339.1",
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},
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],
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"feature": "ENST00000875396.1",
"gene_hgnc_id": 13243,
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},
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},
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],
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"feature": "ENST00000875399.1",
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},
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"consequences": [
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],
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"feature": "ENST00000956578.1",
"gene_hgnc_id": 13243,
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"hgvs_c": "c.381+4847T>G",
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"protein_coding": true,
"protein_id": "ENSP00000626637.1",
"strand": false,
"transcript": "ENST00000956578.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "NM_001363412.2",
"gene_hgnc_id": 13243,
"gene_symbol": "LMBR1",
"hgvs_c": "c.360+4847T>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001350341.1",
"strand": false,
"transcript": "NM_001363412.2",
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},
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