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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: 1-117959358-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=117959358&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WDR3",
"hgnc_id": 12755,
"hgvs_c": "c.2743G>C",
"hgvs_p": "p.Val915Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006784.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SPAG17",
"hgnc_id": 26620,
"hgvs_c": "c.6672+4441C>G",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_206996.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 66,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.5665,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08834326267242432,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 943,
"aa_ref": "V",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10004,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_006784.3",
"gene_hgnc_id": 12755,
"gene_symbol": "WDR3",
"hgvs_c": "c.2743G>C",
"hgvs_p": "p.Val915Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000349139.6",
"protein_coding": true,
"protein_id": "NP_006775.1",
"strand": true,
"transcript": "NM_006784.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 943,
"aa_ref": "V",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10004,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000349139.6",
"gene_hgnc_id": 12755,
"gene_symbol": "WDR3",
"hgvs_c": "c.2743G>C",
"hgvs_p": "p.Val915Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006784.3",
"protein_coding": true,
"protein_id": "ENSP00000308179.4",
"strand": true,
"transcript": "ENST00000349139.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2223,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7203,
"cdna_start": null,
"cds_end": null,
"cds_length": 6672,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_206996.4",
"gene_hgnc_id": 26620,
"gene_symbol": "SPAG17",
"hgvs_c": "c.6672+4441C>G",
"hgvs_p": null,
"intron_rank": 48,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336338.10",
"protein_coding": true,
"protein_id": "NP_996879.1",
"strand": false,
"transcript": "NM_206996.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2223,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7203,
"cdna_start": null,
"cds_end": null,
"cds_length": 6672,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000336338.10",
"gene_hgnc_id": 26620,
"gene_symbol": "SPAG17",
"hgvs_c": "c.6672+4441C>G",
"hgvs_p": null,
"intron_rank": 48,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_206996.4",
"protein_coding": true,
"protein_id": "ENSP00000337804.5",
"strand": false,
"transcript": "ENST00000336338.10",
"transcript_support_level": 1
},
{
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"aa_length": 943,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4210,
"cdna_start": 3508,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000880604.1",
"gene_hgnc_id": 12755,
"gene_symbol": "WDR3",
"hgvs_c": "c.2743G>C",
"hgvs_p": "p.Val915Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550663.1",
"strand": true,
"transcript": "ENST00000880604.1",
"transcript_support_level": null
},
{
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"aa_length": 943,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 2921,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000880605.1",
"gene_hgnc_id": 12755,
"gene_symbol": "WDR3",
"hgvs_c": "c.2743G>C",
"hgvs_p": "p.Val915Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550664.1",
"strand": true,
"transcript": "ENST00000880605.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 943,
"aa_ref": "V",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": 3000,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000928994.1",
"gene_hgnc_id": 12755,
"gene_symbol": "WDR3",
"hgvs_c": "c.2743G>C",
"hgvs_p": "p.Val915Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599053.1",
"strand": true,
"transcript": "ENST00000928994.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4404,
"cdna_start": 2880,
"cds_end": null,
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"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000947751.1",
"gene_hgnc_id": 12755,
"gene_symbol": "WDR3",
"hgvs_c": "c.2743G>C",
"hgvs_p": "p.Val915Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617810.1",
"strand": true,
"transcript": "ENST00000947751.1",
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},
{
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"cdna_start": 2850,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000947753.1",
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"gene_symbol": "WDR3",
"hgvs_c": "c.2743G>C",
"hgvs_p": "p.Val915Leu",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000617812.1",
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"transcript": "ENST00000947753.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000947754.1",
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"protein_coding": true,
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},
{
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],
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},
{
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"feature": "XM_011540934.2",
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},
{
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},
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],
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"feature": "XM_011540935.3",
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},
{
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"feature": "XM_011540936.3",
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},
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},
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],
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"feature": "XM_006710428.4",
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"protein_coding": true,
"protein_id": "XP_006710491.1",
"strand": false,
"transcript": "XM_006710428.4",
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},
{
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"consequences": [
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],
"exon_count": 37,
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"feature": "XM_011540939.3",
"gene_hgnc_id": 26620,
"gene_symbol": "SPAG17",
"hgvs_c": "c.4491+4441C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011539241.1",
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},
{
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