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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: 1-204546735-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=204546735&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 204546735,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000367182.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.823-62C>T",
"hgvs_p": null,
"transcript": "NM_002393.5",
"protein_id": "NP_002384.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10050,
"mane_select": "ENST00000367182.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.823-62C>T",
"hgvs_p": null,
"transcript": "ENST00000367182.8",
"protein_id": "ENSP00000356150.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10050,
"mane_select": "NM_002393.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.673-62C>T",
"hgvs_p": null,
"transcript": "ENST00000454264.6",
"protein_id": "ENSP00000396840.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.79-2531C>T",
"hgvs_p": null,
"transcript": "ENST00000367183.7",
"protein_id": "ENSP00000356151.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": -4,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.673-62C>T",
"hgvs_p": null,
"transcript": "NM_001204171.2",
"protein_id": "NP_001191100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.529-62C>T",
"hgvs_p": null,
"transcript": "NM_001278517.2",
"protein_id": "NP_001265446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.529-62C>T",
"hgvs_p": null,
"transcript": "ENST00000614459.4",
"protein_id": "ENSP00000482388.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.154-62C>T",
"hgvs_p": null,
"transcript": "NM_001278519.2",
"protein_id": "NP_001265448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": -4,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.154-62C>T",
"hgvs_p": null,
"transcript": "ENST00000612738.4",
"protein_id": "ENSP00000478080.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": -4,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.478-62C>T",
"hgvs_p": null,
"transcript": "ENST00000367179.7",
"protein_id": "ENSP00000356147.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 212,
"cds_start": -4,
"cds_end": null,
"cds_length": 640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.79-2531C>T",
"hgvs_p": null,
"transcript": "NM_001204172.2",
"protein_id": "NP_001191101.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 164,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.*332-62C>T",
"hgvs_p": null,
"transcript": "NM_001278516.2",
"protein_id": "NP_001265445.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.344-62C>T",
"hgvs_p": null,
"transcript": "NM_001278518.2",
"protein_id": "NP_001265447.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 116,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
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"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "n.*332-62C>T",
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"transcript": "ENST00000463049.6",
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},
{
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"strand": true,
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],
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"gene_symbol": "MDM4",
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"hgvs_c": "n.*332-62C>T",
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"transcript": "ENST00000470908.6",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "MDM4",
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"hgvs_c": "n.344-62C>T",
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"transcript": "ENST00000616250.4",
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},
{
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],
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"gene_symbol": "MDM4",
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"hgvs_c": "c.877-62C>T",
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"transcript": "XM_017001311.2",
"protein_id": "XP_016856800.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
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"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.862-62C>T",
"hgvs_p": null,
"transcript": "XM_017001312.2",
"protein_id": "XP_016856801.1",
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},
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MDM4",
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"hgvs_c": "c.823-62C>T",
"hgvs_p": null,
"transcript": "XM_024447114.2",
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},
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],
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},
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],
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},
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"strand": true,
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],
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.673-62C>T",
"hgvs_p": null,
"transcript": "XM_047420951.1",
"protein_id": "XP_047276907.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"hgvs_c": "c.442-62C>T",
"hgvs_p": null,
"transcript": "XM_047420952.1",
"protein_id": "XP_047276908.1",
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}
],
"gene_symbol": "MDM4",
"gene_hgnc_id": 6974,
"dbsnp": "rs2290855",
"frequency_reference_population": 0.6608407,
"hom_count_reference_population": 248355,
"allele_count_reference_population": 731322,
"gnomad_exomes_af": 0.674803,
"gnomad_genomes_af": 0.573134,
"gnomad_exomes_ac": 644216,
"gnomad_genomes_ac": 87106,
"gnomad_exomes_homalt": 220844,
"gnomad_genomes_homalt": 27511,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.062,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000367182.8",
"gene_symbol": "MDM4",
"hgnc_id": 6974,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.823-62C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}