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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: 16-30026712-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30026712&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TLCD3B",
"hgnc_id": 25295,
"hgvs_c": "c.599C>A",
"hgvs_p": "p.Ala200Asp",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001352173.2",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "C16orf92",
"hgnc_id": 26346,
"hgvs_c": "c.312-376G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001353379.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.1031,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13326388597488403,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 274,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 825,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_031478.6",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ala114Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380495.9",
"protein_coding": true,
"protein_id": "NP_113666.2",
"strand": false,
"transcript": "NM_031478.6",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 274,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 825,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000380495.9",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ala114Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031478.6",
"protein_coding": true,
"protein_id": "ENSP00000369863.4",
"strand": false,
"transcript": "ENST00000380495.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 224,
"aa_ref": "A",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1481,
"cdna_start": 241,
"cds_end": null,
"cds_length": 675,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000279389.8",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ala64Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000279389.4",
"strand": false,
"transcript": "ENST00000279389.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1083,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001352173.2",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.599C>A",
"hgvs_p": "p.Ala200Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339102.1",
"strand": false,
"transcript": "NM_001352173.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 273,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 822,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934494.1",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ala114Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604553.1",
"strand": false,
"transcript": "ENST00000934494.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 224,
"aa_ref": "A",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1481,
"cdna_start": 241,
"cds_end": null,
"cds_length": 675,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318504.2",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ala64Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305433.1",
"strand": false,
"transcript": "NM_001318504.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 170,
"aa_ref": "A",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 237,
"cds_end": null,
"cds_length": 513,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000564806.1",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ala64Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457769.1",
"strand": false,
"transcript": "ENST00000564806.1",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 145,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 937,
"cdna_start": 839,
"cds_end": null,
"cds_length": 439,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000561666.5",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ala114Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456854.1",
"strand": false,
"transcript": "ENST00000561666.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 309,
"aa_ref": "A",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 570,
"cds_end": null,
"cds_length": 930,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024450464.2",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.446C>A",
"hgvs_p": "p.Ala149Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306232.1",
"strand": false,
"transcript": "XM_024450464.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 274,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 901,
"cds_end": null,
"cds_length": 825,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005255613.4",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ala114Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255670.1",
"strand": false,
"transcript": "XM_005255613.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 274,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 841,
"cds_end": null,
"cds_length": 825,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005255614.4",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ala114Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255671.1",
"strand": false,
"transcript": "XM_005255614.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 274,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 825,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017023750.3",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ala114Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879239.1",
"strand": false,
"transcript": "XM_017023750.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 274,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 994,
"cds_end": null,
"cds_length": 825,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017023751.2",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ala114Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879240.1",
"strand": false,
"transcript": "XM_017023751.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 274,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": 897,
"cds_end": null,
"cds_length": 825,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017023752.2",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ala114Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879241.1",
"strand": false,
"transcript": "XM_017023752.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 274,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 837,
"cds_end": null,
"cds_length": 825,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047434736.1",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.341C>A",
"hgvs_p": "p.Ala114Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290692.1",
"strand": false,
"transcript": "XM_047434736.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 224,
"aa_ref": "A",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 675,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017023754.2",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ala64Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879243.1",
"strand": false,
"transcript": "XM_017023754.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 224,
"aa_ref": "A",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": 357,
"cds_end": null,
"cds_length": 675,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024450466.2",
"gene_hgnc_id": 25295,
"gene_symbol": "TLCD3B",
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ala64Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306234.1",
"strand": false,
"transcript": "XM_024450466.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 156,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 670,
"cdna_start": null,
"cds_end": null,
"cds_length": 471,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353379.2",
"gene_hgnc_id": 26346,
"gene_symbol": "C16orf92",
"hgvs_c": "c.312-376G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340308.1",
"strand": true,
"transcript": "NM_001353379.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 114,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 462,
"cdna_start": null,
"cds_end": null,
"cds_length": 345,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000569198.1",
"gene_hgnc_id": 26346,
"gene_symbol": "C16orf92",
"hgvs_c": "c.249-376G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454560.1",
"strand": true,
"transcript": "ENST00000569198.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 49,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 233,
"cdna_start": null,
"cds_end": null,
"cds_length": 150,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567847.1",
"gene_hgnc_id": 26346,
"gene_symbol": "C16orf92",
"hgvs_c": "c.134-891G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458048.1",
"strand": true,
"transcript": "ENST00000567847.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 101,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 542,
"cdna_start": null,
"cds_end": null,
"cds_length": 306,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
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