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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: 18-62197888-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=62197888&ref=G&alt=A&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": "RELCH",
"hgnc_id": 29289,
"hgvs_c": "c.526+9857G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001346229.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 62850,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9200000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1216,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8617,
"cdna_start": null,
"cds_end": null,
"cds_length": 3651,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346231.2",
"gene_hgnc_id": 29289,
"gene_symbol": "RELCH",
"hgvs_c": "c.526+9857G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644646.2",
"protein_coding": true,
"protein_id": "NP_001333160.1",
"strand": true,
"transcript": "NM_001346231.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1216,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8617,
"cdna_start": null,
"cds_end": null,
"cds_length": 3651,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644646.2",
"gene_hgnc_id": 29289,
"gene_symbol": "RELCH",
"hgvs_c": "c.526+9857G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001346231.2",
"protein_coding": true,
"protein_id": "ENSP00000494314.1",
"strand": true,
"transcript": "ENST00000644646.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1216,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6178,
"cdna_start": null,
"cds_end": null,
"cds_length": 3651,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398130.6",
"gene_hgnc_id": 29289,
"gene_symbol": "RELCH",
"hgvs_c": "c.526+9857G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381198.2",
"strand": true,
"transcript": "ENST00000398130.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1258,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5588,
"cdna_start": null,
"cds_end": null,
"cds_length": 3777,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950689.1",
"gene_hgnc_id": 29289,
"gene_symbol": "RELCH",
"hgvs_c": "c.526+9857G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620748.1",
"strand": true,
"transcript": "ENST00000950689.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1250,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8719,
"cdna_start": null,
"cds_end": null,
"cds_length": 3753,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346229.2",
"gene_hgnc_id": 29289,
"gene_symbol": "RELCH",
"hgvs_c": "c.526+9857G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333158.1",
"strand": true,
"transcript": "NM_001346229.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1250,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5579,
"cdna_start": null,
"cds_end": null,
"cds_length": 3753,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000256858.10",
"gene_hgnc_id": 29289,
"gene_symbol": "RELCH",
"hgvs_c": "c.526+9857G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000256858.5",
"strand": true,
"transcript": "ENST00000256858.10",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1250,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5572,
"cdna_start": null,
"cds_end": null,
"cds_length": 3753,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882912.1",
"gene_hgnc_id": 29289,
"gene_symbol": "RELCH",
"hgvs_c": "c.526+9857G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552971.1",
"strand": true,
"transcript": "ENST00000882912.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1224,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8641,
"cdna_start": null,
"cds_end": null,
"cds_length": 3675,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346230.2",
"gene_hgnc_id": 29289,
"gene_symbol": "RELCH",
"hgvs_c": "c.526+9857G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333159.1",
"strand": true,
"transcript": "NM_001346230.2",
"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": 5514,
"cdna_start": null,
"cds_end": null,
"cds_length": 3675,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882911.1",
"gene_hgnc_id": 29289,
"gene_symbol": "RELCH",
"hgvs_c": "c.526+9857G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552970.1",
"strand": true,
"transcript": "ENST00000882911.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
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"feature": "NM_020854.4",
"gene_hgnc_id": 29289,
"gene_symbol": "RELCH",
"hgvs_c": "c.526+9857G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_065905.2",
"strand": true,
"transcript": "NM_020854.4",
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},
{
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"consequences": [
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],
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"feature": "ENST00000939328.1",
"gene_hgnc_id": 29289,
"gene_symbol": "RELCH",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609387.1",
"strand": true,
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},
{
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],
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"feature": "ENST00000939327.1",
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"feature": "ENST00000950690.1",
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},
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],
"exon_count": 29,
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"feature": "NM_001346233.2",
"gene_hgnc_id": 29289,
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"hgvs_c": "c.526+9857G>A",
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"mane_plus": null,
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"strand": true,
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},
{
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"feature": "ENST00000882913.1",
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},
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],
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"feature": "ENST00000939329.1",
"gene_hgnc_id": 29289,
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"hgvs_c": "c.526+9857G>A",
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"protein_coding": true,
"protein_id": "ENSP00000609388.1",
"strand": true,
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},
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"feature": "ENST00000882914.1",
"gene_hgnc_id": 29289,
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"hgvs_c": "c.526+9857G>A",
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},
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},
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},
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"consequences": [
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],
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"feature": "NM_001346234.2",
"gene_hgnc_id": 29289,
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"protein_coding": true,
"protein_id": "NP_001333163.1",
"strand": true,
"transcript": "NM_001346234.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 31,
"exon_rank": null,
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"feature": "NM_001346235.2",
"gene_hgnc_id": 29289,
"gene_symbol": "RELCH",
"hgvs_c": "c.-1848+9857G>A",
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"mane_plus": null,
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"strand": true,
"transcript": "NM_001346235.2",
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},
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