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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: 1-205769174-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205769174&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": [
"3_prime_UTR_variant"
],
"gene_symbol": "RAB29",
"hgnc_id": 9789,
"hgvs_c": "c.*1168C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_003929.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 50010,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003929.3",
"gene_hgnc_id": 9789,
"gene_symbol": "RAB29",
"hgvs_c": "c.*1168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367139.8",
"protein_coding": true,
"protein_id": "NP_003920.1",
"strand": false,
"transcript": "NM_003929.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000367139.8",
"gene_hgnc_id": 9789,
"gene_symbol": "RAB29",
"hgvs_c": "c.*1168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003929.3",
"protein_coding": true,
"protein_id": "ENSP00000356107.3",
"strand": false,
"transcript": "ENST00000367139.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3207,
"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001135662.2",
"gene_hgnc_id": 9789,
"gene_symbol": "RAB29",
"hgvs_c": "c.*1168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129134.1",
"strand": false,
"transcript": "NM_001135662.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895155.1",
"gene_hgnc_id": 9789,
"gene_symbol": "RAB29",
"hgvs_c": "c.*1168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565214.1",
"strand": false,
"transcript": "ENST00000895155.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2672,
"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895156.1",
"gene_hgnc_id": 9789,
"gene_symbol": "RAB29",
"hgvs_c": "c.*1168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565215.1",
"strand": false,
"transcript": "ENST00000895156.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895157.1",
"gene_hgnc_id": 9789,
"gene_symbol": "RAB29",
"hgvs_c": "c.*1168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565216.1",
"strand": false,
"transcript": "ENST00000895157.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895158.1",
"gene_hgnc_id": 9789,
"gene_symbol": "RAB29",
"hgvs_c": "c.*1168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565217.1",
"strand": false,
"transcript": "ENST00000895158.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000933467.1",
"gene_hgnc_id": 9789,
"gene_symbol": "RAB29",
"hgvs_c": "c.*1168C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603526.1",
"strand": false,
"transcript": "ENST00000933467.1",
"transcript_support_level": null
},
{
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"aa_length": 179,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3422,
"cdna_start": null,
"cds_end": null,
"cds_length": 540,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001135663.2",
"gene_hgnc_id": 9789,
"gene_symbol": "RAB29",
"hgvs_c": "c.*1168C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129135.1",
"strand": false,
"transcript": "NM_001135663.2",
"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": 3054,
"cdna_start": null,
"cds_end": null,
"cds_length": 396,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001135664.2",
"gene_hgnc_id": 9789,
"gene_symbol": "RAB29",
"hgvs_c": "c.*1168C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001129136.1",
"strand": false,
"transcript": "NM_001135664.2",
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},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "XM_005245569.2",
"gene_hgnc_id": 9789,
"gene_symbol": "RAB29",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005245626.1",
"strand": false,
"transcript": "XM_005245569.2",
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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": "XM_005245570.2",
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},
{
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],
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"feature": "XM_005245571.2",
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},
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"cds_end": null,
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"consequences": [
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],
"exon_count": 6,
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"feature": "XM_047433505.1",
"gene_hgnc_id": 9789,
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"hgvs_c": "c.*1168C>T",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "XM_047433505.1",
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},
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],
"exon_count": 5,
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"feature": "XM_017002748.2",
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},
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"consequences": [
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],
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"feature": "XM_017002749.2",
"gene_hgnc_id": 9789,
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"hgvs_c": "c.*1168C>T",
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"protein_coding": true,
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"strand": false,
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},
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
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"feature": "XM_017002750.2",
"gene_hgnc_id": 9789,
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"hgvs_c": "c.*1168C>T",
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},
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],
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"feature": "XM_047433507.1",
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},
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],
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"feature": "XM_047433508.1",
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},
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"consequences": [
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],
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"feature": "XM_047433509.1",
"gene_hgnc_id": 9789,
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"protein_coding": true,
"protein_id": "XP_047289465.1",
"strand": false,
"transcript": "XM_047433509.1",
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},
{
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 396,
"cds_start": null,
"consequences": [
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],
"exon_count": 5,
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"feature": "XM_006711605.4",
"gene_hgnc_id": 9789,
"gene_symbol": "RAB29",
"hgvs_c": "c.*1168C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006711668.1",
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"transcript": "XM_006711605.4",
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},
{
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