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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: 12-6672461-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6672461&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6672461,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001385743.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1076A>C",
"hgvs_p": "p.Asn359Thr",
"transcript": "NM_001385745.1",
"protein_id": "NP_001372674.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 608,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683879.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385745.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1076A>C",
"hgvs_p": "p.Asn359Thr",
"transcript": "ENST00000683879.1",
"protein_id": "ENSP00000507462.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 608,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385745.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.746+755A>C",
"hgvs_p": null,
"transcript": "ENST00000355772.8",
"protein_id": "ENSP00000348018.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355772.8"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1127A>C",
"hgvs_p": "p.Asn376Thr",
"transcript": "ENST00000710399.1",
"protein_id": "ENSP00000518253.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 625,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710399.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1076A>C",
"hgvs_p": "p.Asn359Thr",
"transcript": "NM_001385743.1",
"protein_id": "NP_001372672.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 608,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385743.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1076A>C",
"hgvs_p": "p.Asn359Thr",
"transcript": "NM_001385744.1",
"protein_id": "NP_001372673.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 608,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385744.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1076A>C",
"hgvs_p": "p.Asn359Thr",
"transcript": "NM_001385746.1",
"protein_id": "NP_001372675.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 608,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385746.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1076A>C",
"hgvs_p": "p.Asn359Thr",
"transcript": "NM_001385747.1",
"protein_id": "NP_001372676.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 608,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385747.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1028A>C",
"hgvs_p": "p.Asn343Thr",
"transcript": "NM_001385748.1",
"protein_id": "NP_001372677.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 592,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385748.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1028A>C",
"hgvs_p": "p.Asn343Thr",
"transcript": "NM_001385749.1",
"protein_id": "NP_001372678.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 592,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385749.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "NM_001135734.3",
"protein_id": "NP_001129206.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 577,
"cds_start": 983,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135734.3"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "NM_001385750.1",
"protein_id": "NP_001372679.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 577,
"cds_start": 983,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385750.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "NM_001385751.1",
"protein_id": "NP_001372680.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 577,
"cds_start": 983,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385751.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "NM_001385752.1",
"protein_id": "NP_001372681.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 577,
"cds_start": 983,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385752.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "NM_001385753.1",
"protein_id": "NP_001372682.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 577,
"cds_start": 983,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385753.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "NM_001385754.1",
"protein_id": "NP_001372683.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 577,
"cds_start": 983,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385754.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "NM_001385755.1",
"protein_id": "NP_001372684.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 577,
"cds_start": 983,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385755.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "NM_001385756.1",
"protein_id": "NP_001372685.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 577,
"cds_start": 983,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385756.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "NM_001385757.1",
"protein_id": "NP_001372686.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 577,
"cds_start": 983,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385757.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "ENST00000361959.7",
"protein_id": "ENSP00000354592.3",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 577,
"cds_start": 983,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361959.7"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "ENST00000396801.7",
"protein_id": "ENSP00000380019.3",
"transcript_support_level": 2,
"aa_start": 328,
"aa_end": null,
"aa_length": 577,
"cds_start": 983,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396801.7"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.935A>C",
"hgvs_p": "p.Asn312Thr",
"transcript": "NM_001385758.1",
"protein_id": "NP_001372687.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 561,
"cds_start": 935,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
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"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.986,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001385743.1",
"gene_symbol": "ZNF384",
"hgnc_id": 11955,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1076A>C",
"hgvs_p": "p.Asn359Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}