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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: 11-118607615-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118607615&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "PHLDB1",
"hgnc_id": 23697,
"hgvs_c": "c.-106G>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001144758.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124902765",
"hgnc_id": null,
"hgvs_c": "n.390-427C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "XR_007062908.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6700000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1377,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5445,
"cdna_start": null,
"cds_end": null,
"cds_length": 4134,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001144758.3",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000600882.6",
"protein_coding": true,
"protein_id": "NP_001138230.1",
"strand": true,
"transcript": "NM_001144758.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1377,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5445,
"cdna_start": null,
"cds_end": null,
"cds_length": 4134,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000600882.6",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001144758.3",
"protein_coding": true,
"protein_id": "ENSP00000469820.1",
"strand": true,
"transcript": "ENST00000600882.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1377,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5753,
"cdna_start": null,
"cds_end": null,
"cds_length": 4134,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361417.6",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-179+943G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354498.2",
"strand": true,
"transcript": "ENST00000361417.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1434,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5773,
"cdna_start": null,
"cds_end": null,
"cds_length": 4305,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860958.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-263G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531017.1",
"strand": true,
"transcript": "ENST00000860958.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1423,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5595,
"cdna_start": null,
"cds_end": null,
"cds_length": 4272,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860952.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531011.1",
"strand": true,
"transcript": "ENST00000860952.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1422,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5606,
"cdna_start": null,
"cds_end": null,
"cds_length": 4269,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860948.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531007.1",
"strand": true,
"transcript": "ENST00000860948.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1377,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5454,
"cdna_start": null,
"cds_end": null,
"cds_length": 4134,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860953.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531012.1",
"strand": true,
"transcript": "ENST00000860953.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1366,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5437,
"cdna_start": null,
"cds_end": null,
"cds_length": 4101,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860949.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531008.1",
"strand": true,
"transcript": "ENST00000860949.1",
"transcript_support_level": null
},
{
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"aa_length": 1366,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5573,
"cdna_start": null,
"cds_end": null,
"cds_length": 4101,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860957.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-263G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531016.1",
"strand": true,
"transcript": "ENST00000860957.1",
"transcript_support_level": null
},
{
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"aa_length": 1334,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5321,
"cdna_start": null,
"cds_end": null,
"cds_length": 4005,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860955.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531014.1",
"strand": true,
"transcript": "ENST00000860955.1",
"transcript_support_level": null
},
{
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"aa_length": 1319,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5271,
"cdna_start": null,
"cds_end": null,
"cds_length": 3960,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001144759.3",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138231.1",
"strand": true,
"transcript": "NM_001144759.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 5456,
"cdna_start": null,
"cds_end": null,
"cds_length": 3960,
"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860945.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-263G>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531004.1",
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"transcript": "ENST00000860945.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 22,
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"exon_rank_end": null,
"feature": "ENST00000860956.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531015.1",
"strand": true,
"transcript": "ENST00000860956.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860946.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531005.1",
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"transcript": "ENST00000860946.1",
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},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860954.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-263G>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531013.1",
"strand": true,
"transcript": "ENST00000860954.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5118,
"cdna_start": null,
"cds_end": null,
"cds_length": 3789,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860950.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531009.1",
"strand": true,
"transcript": "ENST00000860950.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000860947.1",
"gene_hgnc_id": 23697,
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"hgvs_c": "c.-106G>C",
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"protein_id": "ENSP00000531006.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860951.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531010.1",
"strand": true,
"transcript": "ENST00000860951.1",
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},
{
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"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 27,
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"exon_rank_end": null,
"feature": "XM_011542708.4",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-106G>C",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541010.1",
"strand": true,
"transcript": "XM_011542708.4",
"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": 5473,
"cdna_start": null,
"cds_end": null,
"cds_length": 4005,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047426637.1",
"gene_hgnc_id": 23697,
"gene_symbol": "PHLDB1",
"hgvs_c": "c.-263G>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282593.1",
"strand": true,
"transcript": "XM_047426637.1",
"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": 5461,
"cdna_start": null,
"cds_end": null,
"cds_length": 3993,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047426638.1",
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