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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: 4-182893080-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=182893080&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DCTD",
"hgnc_id": 2710,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Glu148Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001012732.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000303565",
"hgnc_id": null,
"hgvs_c": "n.164-517C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000795667.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.2688,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.22884541749954224,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": 492,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001921.3",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000438320.7",
"protein_coding": true,
"protein_id": "NP_001912.2",
"strand": false,
"transcript": "NM_001921.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": 492,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000438320.7",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001921.3",
"protein_coding": true,
"protein_id": "ENSP00000398194.2",
"strand": false,
"transcript": "ENST00000438320.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 189,
"aa_ref": "E",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 508,
"cds_end": null,
"cds_length": 570,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000357067.7",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Glu148Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349576.3",
"strand": false,
"transcript": "ENST00000357067.7",
"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": 879,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000507631.5",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "n.*147G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000425287.1",
"strand": false,
"transcript": "ENST00000507631.5",
"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": 879,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000507631.5",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "n.*147G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000425287.1",
"strand": false,
"transcript": "ENST00000507631.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 189,
"aa_ref": "E",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 515,
"cds_end": null,
"cds_length": 570,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001012732.2",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Glu148Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001012750.1",
"strand": false,
"transcript": "NM_001012732.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001351743.2",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338672.1",
"strand": false,
"transcript": "NM_001351743.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3049,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001351744.2",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338673.1",
"strand": false,
"transcript": "NM_001351744.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001351745.2",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338674.1",
"strand": false,
"transcript": "NM_001351745.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2920,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001351747.2",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338676.1",
"strand": false,
"transcript": "NM_001351747.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 644,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001351748.2",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338677.1",
"strand": false,
"transcript": "NM_001351748.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2072,
"cdna_start": 636,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001351750.2",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338679.1",
"strand": false,
"transcript": "NM_001351750.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 613,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001351753.2",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338682.1",
"strand": false,
"transcript": "NM_001351753.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 794,
"cdna_start": 639,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000510370.5",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424017.1",
"strand": false,
"transcript": "ENST00000510370.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 811,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908122.1",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578181.1",
"strand": false,
"transcript": "ENST00000908122.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 889,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908123.1",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578182.1",
"strand": false,
"transcript": "ENST00000908123.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3655,
"cdna_start": 2220,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000908124.1",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578183.1",
"strand": false,
"transcript": "ENST00000908124.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2110,
"cdna_start": 684,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908126.1",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578185.1",
"strand": false,
"transcript": "ENST00000908126.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2090,
"cdna_start": 669,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908127.1",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578186.1",
"strand": false,
"transcript": "ENST00000908127.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 1339,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000908128.1",
"gene_hgnc_id": 2710,
"gene_symbol": "DCTD",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578187.1",
"strand": false,
"transcript": "ENST00000908128.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 178,
"aa_ref": "E",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 537,
"cds_start": 409,
"consequences": [
"missense_variant"
],
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}