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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: 10-101899844-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101899844&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ARMH3",
"hgnc_id": 25788,
"hgvs_c": "c.1782-10354G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_024541.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000308403",
"hgnc_id": null,
"hgvs_c": "n.76+2939C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000833795.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6499999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 689,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": null,
"cds_end": null,
"cds_length": 2070,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024541.3",
"gene_hgnc_id": 25788,
"gene_symbol": "ARMH3",
"hgvs_c": "c.1782-10354G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370033.9",
"protein_coding": true,
"protein_id": "NP_078817.2",
"strand": false,
"transcript": "NM_024541.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 689,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": null,
"cds_end": null,
"cds_length": 2070,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370033.9",
"gene_hgnc_id": 25788,
"gene_symbol": "ARMH3",
"hgvs_c": "c.1782-10354G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024541.3",
"protein_coding": true,
"protein_id": "ENSP00000359050.4",
"strand": false,
"transcript": "ENST00000370033.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 746,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4338,
"cdna_start": null,
"cds_end": null,
"cds_length": 2241,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896855.1",
"gene_hgnc_id": 25788,
"gene_symbol": "ARMH3",
"hgvs_c": "c.1953-10354G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566914.1",
"strand": false,
"transcript": "ENST00000896855.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 739,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3387,
"cdna_start": null,
"cds_end": null,
"cds_length": 2220,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951104.1",
"gene_hgnc_id": 25788,
"gene_symbol": "ARMH3",
"hgvs_c": "c.1932-10354G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621163.1",
"strand": false,
"transcript": "ENST00000951104.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 695,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4184,
"cdna_start": null,
"cds_end": null,
"cds_length": 2088,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951098.1",
"gene_hgnc_id": 25788,
"gene_symbol": "ARMH3",
"hgvs_c": "c.1800-10354G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621157.1",
"strand": false,
"transcript": "ENST00000951098.1",
"transcript_support_level": null
},
{
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"aa_length": 689,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": null,
"cds_end": null,
"cds_length": 2070,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896860.1",
"gene_hgnc_id": 25788,
"gene_symbol": "ARMH3",
"hgvs_c": "c.1782-10354G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566919.1",
"strand": false,
"transcript": "ENST00000896860.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 689,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": null,
"cds_end": null,
"cds_length": 2070,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896863.1",
"gene_hgnc_id": 25788,
"gene_symbol": "ARMH3",
"hgvs_c": "c.1782-10354G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566922.1",
"strand": false,
"transcript": "ENST00000896863.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 689,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4166,
"cdna_start": null,
"cds_end": null,
"cds_length": 2070,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000921909.1",
"gene_hgnc_id": 25788,
"gene_symbol": "ARMH3",
"hgvs_c": "c.1782-10354G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591968.1",
"strand": false,
"transcript": "ENST00000921909.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2070,
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"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000921911.1",
"gene_hgnc_id": 25788,
"gene_symbol": "ARMH3",
"hgvs_c": "c.1782-10354G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000591970.1",
"strand": false,
"transcript": "ENST00000921911.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000921913.1",
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"gene_symbol": "ARMH3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000591972.1",
"strand": false,
"transcript": "ENST00000921913.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000951096.1",
"gene_hgnc_id": 25788,
"gene_symbol": "ARMH3",
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},
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],
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"feature": "ENST00000951103.1",
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},
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"feature": "ENST00000951107.1",
"gene_hgnc_id": 25788,
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"protein_coding": true,
"protein_id": "ENSP00000621166.1",
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"transcript": "ENST00000951107.1",
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},
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],
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"feature": "ENST00000951101.1",
"gene_hgnc_id": 25788,
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},
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],
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"feature": "ENST00000896862.1",
"gene_hgnc_id": 25788,
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"hgvs_c": "c.1689-10354G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000566921.1",
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},
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"feature": "ENST00000896858.1",
"gene_hgnc_id": 25788,
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"hgvs_c": "c.1680-10354G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000566917.1",
"strand": false,
"transcript": "ENST00000896858.1",
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},
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"feature": "ENST00000951105.1",
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"feature": "ENST00000951106.1",
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},
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],
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"protein_id": "ENSP00000566920.1",
"strand": false,
"transcript": "ENST00000896861.1",
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},
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"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000951097.1",
"gene_hgnc_id": 25788,
"gene_symbol": "ARMH3",
"hgvs_c": "c.1674-10354G>A",
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"intron_rank": 21,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000621156.1",
"strand": false,
"transcript": "ENST00000951097.1",
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},
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"cds_end": null,
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"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000921912.1",
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