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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: 17-32222354-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=32222354&ref=A&alt=G&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": "RHOT1",
"hgnc_id": 21168,
"hgvs_c": "c.1959-2262A>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001033568.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 27659,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 659,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": null,
"cds_end": null,
"cds_length": 1980,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001033566.3",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1863-2262A>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000545287.7",
"protein_coding": true,
"protein_id": "NP_001028738.1",
"strand": true,
"transcript": "NM_001033566.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 659,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": null,
"cds_end": null,
"cds_length": 1980,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545287.7",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1863-2262A>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001033566.3",
"protein_coding": true,
"protein_id": "ENSP00000439737.2",
"strand": true,
"transcript": "ENST00000545287.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 691,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3297,
"cdna_start": null,
"cds_end": null,
"cds_length": 2076,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358365.7",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1959-2262A>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351132.3",
"strand": true,
"transcript": "ENST00000358365.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 618,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": null,
"cds_end": null,
"cds_length": 1857,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000333942.10",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1740-2262A>G",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334724.6",
"strand": true,
"transcript": "ENST00000333942.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 597,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": null,
"cds_end": null,
"cds_length": 1794,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354266.7",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1677-2262A>G",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346215.3",
"strand": true,
"transcript": "ENST00000354266.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2771,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000578205.5",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "n.*1708-2262A>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462612.1",
"strand": true,
"transcript": "ENST00000578205.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3013,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000581031.5",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "n.*122+1168A>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464094.1",
"strand": true,
"transcript": "ENST00000581031.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 707,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3335,
"cdna_start": null,
"cds_end": null,
"cds_length": 2124,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959387.1",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1863-405A>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629446.1",
"strand": true,
"transcript": "ENST00000959387.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 700,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": null,
"cds_end": null,
"cds_length": 2103,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903817.1",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1986-2262A>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573876.1",
"strand": true,
"transcript": "ENST00000903817.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 691,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": null,
"cds_end": null,
"cds_length": 2076,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001033568.3",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1959-2262A>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001028740.1",
"strand": true,
"transcript": "NM_001033568.3",
"transcript_support_level": 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": 21,
"exon_rank": null,
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"feature": "ENST00000959386.1",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1959-2262A>G",
"hgvs_p": null,
"intron_rank": 20,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629445.1",
"strand": true,
"transcript": "ENST00000959386.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 21,
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"feature": "ENST00000959390.1",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1863-489A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629449.1",
"strand": true,
"transcript": "ENST00000959390.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000959391.1",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1875-2262A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629450.1",
"strand": true,
"transcript": "ENST00000959391.1",
"transcript_support_level": 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": 1980,
"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000903812.1",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1863-2262A>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573871.1",
"strand": true,
"transcript": "ENST00000903812.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000903818.1",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1860-2262A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573877.1",
"strand": true,
"transcript": "ENST00000903818.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_length": 1974,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000903814.1",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1857-2262A>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573873.1",
"strand": true,
"transcript": "ENST00000903814.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1974,
"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000959388.1",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1857-2262A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629447.1",
"strand": true,
"transcript": "ENST00000959388.1",
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},
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"consequences": [
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],
"exon_count": 20,
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"feature": "NM_001288754.2",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1836-2262A>G",
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"strand": true,
"transcript": "NM_001288754.2",
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},
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"consequences": [
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],
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"feature": "ENST00000394692.6",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1836-2262A>G",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
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"exon_rank_end": null,
"feature": "ENST00000928287.1",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1830-2262A>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598346.1",
"strand": true,
"transcript": "ENST00000928287.1",
"transcript_support_level": 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": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903815.1",
"gene_hgnc_id": 21168,
"gene_symbol": "RHOT1",
"hgvs_c": "c.1779-2262A>G",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573874.1",
"strand": true,
"transcript": "ENST00000903815.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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