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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: 1-204516761-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=204516761&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MDM4",
"hgnc_id": 6974,
"hgvs_c": "c.-36+252C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_002393.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 30,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6800000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10050,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002393.5",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+252C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367182.8",
"protein_coding": true,
"protein_id": "NP_002384.2",
"strand": true,
"transcript": "NM_002393.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10050,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367182.8",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+252C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002393.5",
"protein_coding": true,
"protein_id": "ENSP00000356150.3",
"strand": true,
"transcript": "ENST00000367182.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 440,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9926,
"cdna_start": null,
"cds_end": null,
"cds_length": 1323,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000454264.6",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+252C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396840.2",
"strand": true,
"transcript": "ENST00000454264.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 164,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9098,
"cdna_start": null,
"cds_end": null,
"cds_length": 495,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367183.7",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+252C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356151.3",
"strand": true,
"transcript": "ENST00000367183.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000880817.1",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-111C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550876.1",
"strand": true,
"transcript": "ENST00000880817.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4039,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880815.1",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+142C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550874.1",
"strand": true,
"transcript": "ENST00000880815.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3921,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880816.1",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+257C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550875.1",
"strand": true,
"transcript": "ENST00000880816.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922675.1",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+250C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592734.1",
"strand": true,
"transcript": "ENST00000922675.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959568.1",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+10C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629627.1",
"strand": true,
"transcript": "ENST00000959568.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 485,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": null,
"cds_end": null,
"cds_length": 1458,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880814.1",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+252C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550873.1",
"strand": true,
"transcript": "ENST00000880814.1",
"transcript_support_level": null
},
{
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"aa_length": 485,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3954,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922677.1",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+142C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592736.1",
"strand": true,
"transcript": "ENST00000922677.1",
"transcript_support_level": null
},
{
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"aa_length": 473,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3855,
"cdna_start": null,
"cds_end": null,
"cds_length": 1422,
"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000959566.1",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+252C>T",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629625.1",
"strand": true,
"transcript": "ENST00000959566.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000922676.1",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000592735.1",
"strand": true,
"transcript": "ENST00000922676.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1323,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001204171.2",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+252C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191100.1",
"strand": true,
"transcript": "NM_001204171.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"cds_length": 1305,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000959567.1",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+142C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629626.1",
"strand": true,
"transcript": "ENST00000959567.1",
"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": 1179,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278517.2",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+252C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265446.1",
"strand": true,
"transcript": "NM_001278517.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9782,
"cdna_start": null,
"cds_end": null,
"cds_length": 1179,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000614459.4",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+252C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000482388.1",
"strand": true,
"transcript": "ENST00000614459.4",
"transcript_support_level": 5
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000922678.1",
"gene_hgnc_id": 6974,
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"protein_id": "ENSP00000592737.1",
"strand": true,
"transcript": "ENST00000922678.1",
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},
{
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"consequences": [
"intron_variant"
],
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"feature": "NM_001278519.2",
"gene_hgnc_id": 6974,
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"hgvs_c": "c.-36+252C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001265448.1",
"strand": true,
"transcript": "NM_001278519.2",
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},
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"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000612738.4",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+252C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478080.1",
"strand": true,
"transcript": "ENST00000612738.4",
"transcript_support_level": 5
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9072,
"cdna_start": null,
"cds_end": null,
"cds_length": 495,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001204172.2",
"gene_hgnc_id": 6974,
"gene_symbol": "MDM4",
"hgvs_c": "c.-36+252C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191101.1",
"strand": true,
"transcript": "NM_001204172.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 552,
"cdna_start": null,
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