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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: 2-47800161-C-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47800161&ref=C&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"exon_region"
],
"gene_symbol": "MSH6",
"hgnc_id": 7329,
"hgvs_c": "c.",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000234420.11",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FBXO11",
"hgnc_id": 13590,
"hgvs_c": "n.",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000434234.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1360,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4265,
"cdna_start": null,
"cds_end": null,
"cds_length": 4083,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000234420.11",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000179.3",
"protein_coding": true,
"protein_id": "ENSP00000234420.5",
"strand": true,
"transcript": "ENST00000234420.11",
"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": 4158,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000445503.5",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000405294.1",
"strand": true,
"transcript": "ENST00000445503.5",
"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": 4158,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000445503.5",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000405294.1",
"strand": true,
"transcript": "ENST00000445503.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1369,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4218,
"cdna_start": null,
"cds_end": null,
"cds_length": 4110,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936511.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606570.1",
"strand": true,
"transcript": "ENST00000936511.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": null,
"cds_end": null,
"cds_length": 4089,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000700002.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514750.1",
"strand": true,
"transcript": "ENST00000700002.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1360,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": null,
"cds_end": null,
"cds_length": 4083,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895687.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565746.1",
"strand": true,
"transcript": "ENST00000895687.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1359,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": null,
"cds_end": null,
"cds_length": 4080,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936508.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606567.1",
"strand": true,
"transcript": "ENST00000936508.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4059,
"cdna_start": null,
"cds_end": null,
"cds_length": 3909,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936509.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606568.1",
"strand": true,
"transcript": "ENST00000936509.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1261,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": null,
"cds_end": null,
"cds_length": 3786,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000411819.2",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406248.2",
"strand": true,
"transcript": "ENST00000411819.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1261,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": null,
"cds_end": null,
"cds_length": 3786,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000420813.6",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390382.2",
"strand": true,
"transcript": "ENST00000420813.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1261,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4110,
"cdna_start": null,
"cds_end": null,
"cds_length": 3786,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000455383.6",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397484.2",
"strand": true,
"transcript": "ENST00000455383.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1261,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7669,
"cdna_start": null,
"cds_end": null,
"cds_length": 3786,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000652107.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498629.1",
"strand": true,
"transcript": "ENST00000652107.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1261,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3959,
"cdna_start": null,
"cds_end": null,
"cds_length": 3786,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000673637.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501310.1",
"strand": true,
"transcript": "ENST00000673637.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1232,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": null,
"cds_end": null,
"cds_length": 3699,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000700004.2",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514752.2",
"strand": true,
"transcript": "ENST00000700004.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1230,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": null,
"cds_end": null,
"cds_length": 3693,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000540021.6",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446475.1",
"strand": true,
"transcript": "ENST00000540021.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 951,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": null,
"cds_end": null,
"cds_length": 2856,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895688.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565747.1",
"strand": true,
"transcript": "ENST00000895688.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 675,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": null,
"cds_end": null,
"cds_length": 2028,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895689.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565748.1",
"strand": true,
"transcript": "ENST00000895689.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700000.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514749.1",
"strand": true,
"transcript": "ENST00000700000.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": null,
"cds_end": null,
"cds_length": 1368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895690.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565749.1",
"strand": true,
"transcript": "ENST00000895690.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": null,
"cds_end": null,
"cds_length": 1272,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936510.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606569.1",
"strand": true,
"transcript": "ENST00000936510.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 60,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 299,
"cdna_start": null,
"cds_end": null,
"cds_length": 183,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000405808.6",
"gene_hgnc_id": 13590,
"gene_symbol": "FBXO11",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385127.2",
"strand": false,
"transcript": "ENST00000405808.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4822,
"cdna_start": null,
"cds_end": null,
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