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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: 1-150374898-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150374898&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": "RPRD2",
"hgnc_id": 29039,
"hgvs_c": "c.205+9979G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_015203.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 90924,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1461,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8186,
"cdna_start": null,
"cds_end": null,
"cds_length": 4386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015203.5",
"gene_hgnc_id": 29039,
"gene_symbol": "RPRD2",
"hgvs_c": "c.205+9979G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369068.5",
"protein_coding": true,
"protein_id": "NP_056018.2",
"strand": true,
"transcript": "NM_015203.5",
"transcript_support_level": null
},
{
"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": 8186,
"cdna_start": null,
"cds_end": null,
"cds_length": 4386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369068.5",
"gene_hgnc_id": 29039,
"gene_symbol": "RPRD2",
"hgvs_c": "c.205+9979G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015203.5",
"protein_coding": true,
"protein_id": "ENSP00000358064.4",
"strand": true,
"transcript": "ENST00000369068.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1435,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7605,
"cdna_start": null,
"cds_end": null,
"cds_length": 4308,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000401000.8",
"gene_hgnc_id": 29039,
"gene_symbol": "RPRD2",
"hgvs_c": "c.205+9979G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383785.4",
"strand": true,
"transcript": "ENST00000401000.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1435,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8108,
"cdna_start": null,
"cds_end": null,
"cds_length": 4308,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001297674.2",
"gene_hgnc_id": 29039,
"gene_symbol": "RPRD2",
"hgvs_c": "c.205+9979G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284603.1",
"strand": true,
"transcript": "NM_001297674.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1394,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7985,
"cdna_start": null,
"cds_end": null,
"cds_length": 4185,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387119.1",
"gene_hgnc_id": 29039,
"gene_symbol": "RPRD2",
"hgvs_c": "c.205+9979G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374048.1",
"strand": true,
"transcript": "NM_001387119.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1394,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5035,
"cdna_start": null,
"cds_end": null,
"cds_length": 4185,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879565.1",
"gene_hgnc_id": 29039,
"gene_symbol": "RPRD2",
"hgvs_c": "c.205+9979G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549624.1",
"strand": true,
"transcript": "ENST00000879565.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": null,
"cds_end": null,
"cds_length": 4182,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912741.1",
"gene_hgnc_id": 29039,
"gene_symbol": "RPRD2",
"hgvs_c": "c.205+9979G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582800.1",
"strand": true,
"transcript": "ENST00000912741.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1368,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7907,
"cdna_start": null,
"cds_end": null,
"cds_length": 4107,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387118.1",
"gene_hgnc_id": 29039,
"gene_symbol": "RPRD2",
"hgvs_c": "c.205+9979G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374047.1",
"strand": true,
"transcript": "NM_001387118.1",
"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": 4107,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879564.1",
"gene_hgnc_id": 29039,
"gene_symbol": "RPRD2",
"hgvs_c": "c.205+9979G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549623.1",
"strand": true,
"transcript": "ENST00000879564.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387123.1",
"gene_hgnc_id": 29039,
"gene_symbol": "RPRD2",
"hgvs_c": "c.-326+9979G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001374052.1",
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"transcript": "NM_001387123.1",
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},
{
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"consequences": [
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],
"exon_count": 12,
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"feature": "NM_001387124.1",
"gene_hgnc_id": 29039,
"gene_symbol": "RPRD2",
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"mane_plus": null,
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"protein_coding": true,
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},
{
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"feature": "NM_001387121.1",
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"protein_coding": true,
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},
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"feature": "NM_001387120.1",
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"protein_id": "NP_001374049.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001297673.2",
"gene_hgnc_id": 29039,
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"hgvs_c": "c.205+9979G>A",
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"protein_coding": true,
"protein_id": "NP_001284602.1",
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},
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],
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"feature": "NM_001387117.1",
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"protein_coding": true,
"protein_id": "NP_001374046.1",
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"transcript": "NM_001387117.1",
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},
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"consequences": [
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],
"exon_count": 13,
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"feature": "NM_001387122.1",
"gene_hgnc_id": 29039,
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"hgvs_c": "c.-322+9979G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001374051.1",
"strand": true,
"transcript": "NM_001387122.1",
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},
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "NM_001387116.1",
"gene_hgnc_id": 29039,
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"strand": true,
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},
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],
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"feature": "NM_001387115.1",
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},
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],
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"feature": "NM_001387114.1",
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"hgvs_c": "c.205+9979G>A",
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},
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"consequences": [
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],
"exon_count": 3,
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"feature": "ENST00000369067.7",
"gene_hgnc_id": 29039,
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"hgvs_c": "c.205+9979G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000358063.3",
"strand": true,
"transcript": "ENST00000369067.7",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "XM_047415787.1",
"gene_hgnc_id": 29039,
"gene_symbol": "RPRD2",
"hgvs_c": "c.205+9979G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047271743.1",
"strand": true,
"transcript": "XM_047415787.1",
"transcript_support_level": null
},
{
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