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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: 2-143952808-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=143952808&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "QTMAN",
"hgnc_id": 20887,
"hgvs_c": "c.1313G>T",
"hgvs_p": "p.Cys438Phe",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001376306.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GTDC1",
"hgnc_id": 20887,
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000409214.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GTDC1-AS1",
"hgnc_id": 58227,
"hgvs_c": "n.716-11018C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000422799.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "QTMAN-AS1",
"hgnc_id": 58227,
"hgvs_c": "n.722-11018C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NR_110237.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9305,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.32,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8585119843482971,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10585,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001376312.2",
"gene_hgnc_id": 20887,
"gene_symbol": "QTMAN",
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682281.1",
"protein_coding": true,
"protein_id": "NP_001363241.1",
"strand": false,
"transcript": "NM_001376312.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10585,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000682281.1",
"gene_hgnc_id": 20887,
"gene_symbol": "GTDC1",
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001376312.2",
"protein_coding": true,
"protein_id": "ENSP00000507713.1",
"strand": false,
"transcript": "ENST00000682281.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2954,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000409214.5",
"gene_hgnc_id": 20887,
"gene_symbol": "GTDC1",
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386581.1",
"strand": false,
"transcript": "ENST00000409214.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 329,
"aa_ref": "C",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1563,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 990,
"cds_start": 779,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000463875.6",
"gene_hgnc_id": 20887,
"gene_symbol": "GTDC1",
"hgvs_c": "c.779G>T",
"hgvs_p": "p.Cys260Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437964.1",
"strand": false,
"transcript": "ENST00000463875.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1046,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000422799.1",
"gene_hgnc_id": 58227,
"gene_symbol": "GTDC1-AS1",
"hgvs_c": "n.716-11018C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000422799.1",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 507,
"aa_ref": "C",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10732,
"cdna_start": 1537,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001376306.2",
"gene_hgnc_id": 20887,
"gene_symbol": "QTMAN",
"hgvs_c": "c.1313G>T",
"hgvs_p": "p.Cys438Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363235.1",
"strand": false,
"transcript": "NM_001376306.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 507,
"aa_ref": "C",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3892,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000909690.1",
"gene_hgnc_id": 20887,
"gene_symbol": "GTDC1",
"hgvs_c": "c.1313G>T",
"hgvs_p": "p.Cys438Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579749.1",
"strand": false,
"transcript": "ENST00000909690.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 507,
"aa_ref": "C",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3537,
"cdna_start": 2282,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000909705.1",
"gene_hgnc_id": 20887,
"gene_symbol": "GTDC1",
"hgvs_c": "c.1313G>T",
"hgvs_p": "p.Cys438Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579764.1",
"strand": false,
"transcript": "ENST00000909705.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 507,
"aa_ref": "C",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3218,
"cdna_start": 1973,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000970683.1",
"gene_hgnc_id": 20887,
"gene_symbol": "GTDC1",
"hgvs_c": "c.1313G>T",
"hgvs_p": "p.Cys438Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640742.1",
"strand": false,
"transcript": "ENST00000970683.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 507,
"aa_ref": "C",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2836,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000970685.1",
"gene_hgnc_id": 20887,
"gene_symbol": "GTDC1",
"hgvs_c": "c.1313G>T",
"hgvs_p": "p.Cys438Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640744.1",
"strand": false,
"transcript": "ENST00000970685.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001006636.5",
"gene_hgnc_id": 20887,
"gene_symbol": "QTMAN",
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001006637.1",
"strand": false,
"transcript": "NM_001006636.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10603,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001164629.5",
"gene_hgnc_id": 20887,
"gene_symbol": "QTMAN",
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158101.1",
"strand": false,
"transcript": "NM_001164629.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10681,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001354354.2",
"gene_hgnc_id": 20887,
"gene_symbol": "QTMAN",
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341283.1",
"strand": false,
"transcript": "NM_001354354.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001354361.1",
"gene_hgnc_id": 20887,
"gene_symbol": "QTMAN",
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341290.1",
"strand": false,
"transcript": "NM_001354361.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10768,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001376307.2",
"gene_hgnc_id": 20887,
"gene_symbol": "QTMAN",
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363236.1",
"strand": false,
"transcript": "NM_001376307.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10703,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001376308.2",
"gene_hgnc_id": 20887,
"gene_symbol": "QTMAN",
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363237.1",
"strand": false,
"transcript": "NM_001376308.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 458,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10682,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001376309.2",
"gene_hgnc_id": 20887,
"gene_symbol": "QTMAN",
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363238.1",
"strand": false,
"transcript": "NM_001376309.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10845,
"cdna_start": 1650,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001376310.2",
"gene_hgnc_id": 20887,
"gene_symbol": "QTMAN",
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363239.1",
"strand": false,
"transcript": "NM_001376310.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10717,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001376311.2",
"gene_hgnc_id": 20887,
"gene_symbol": "QTMAN",
"hgvs_c": "c.1166G>T",
"hgvs_p": "p.Cys389Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363240.1",
"strand": false,
"transcript": "NM_001376311.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10523,
"cdna_start": 1328,
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