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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: 9-3898792-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=3898792&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GLIS3",
"hgnc_id": 28510,
"hgvs_c": "c.2027G>T",
"hgvs_p": "p.Cys676Phe",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001042413.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "GLIS3-AS1",
"hgnc_id": 28260,
"hgvs_c": "n.151C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000451340.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 436,
"alphamissense_prediction": null,
"alphamissense_score": 0.5196,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,Neonatal diabetes mellitus with congenital hypothyroidism",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8059351444244385,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 930,
"aa_ref": "C",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7684,
"cdna_start": 2773,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001042413.2",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.2027G>T",
"hgvs_p": "p.Cys676Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381971.8",
"protein_coding": true,
"protein_id": "NP_001035878.1",
"strand": false,
"transcript": "NM_001042413.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 930,
"aa_ref": "C",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7684,
"cdna_start": 2773,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000381971.8",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.2027G>T",
"hgvs_p": "p.Cys676Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042413.2",
"protein_coding": true,
"protein_id": "ENSP00000371398.3",
"strand": false,
"transcript": "ENST00000381971.8",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 775,
"aa_ref": "C",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6667,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000324333.14",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.1562G>T",
"hgvs_p": "p.Cys521Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000325494.10",
"strand": false,
"transcript": "ENST00000324333.14",
"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": 738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000451340.3",
"gene_hgnc_id": 28260,
"gene_symbol": "GLIS3-AS1",
"hgvs_c": "n.151C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000451340.3",
"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": 1585,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000467497.6",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "n.567G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000467497.6",
"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": 7515,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000491889.6",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "n.*1390G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419914.1",
"strand": false,
"transcript": "ENST00000491889.6",
"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": 7515,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000491889.6",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "n.*1390G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419914.1",
"strand": false,
"transcript": "ENST00000491889.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 930,
"aa_ref": "C",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7149,
"cdna_start": 2238,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438906.1",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.2027G>T",
"hgvs_p": "p.Cys676Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425835.1",
"strand": false,
"transcript": "NM_001438906.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 930,
"aa_ref": "C",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7253,
"cdna_start": 2342,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438907.1",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.2027G>T",
"hgvs_p": "p.Cys676Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425836.1",
"strand": false,
"transcript": "NM_001438907.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 930,
"aa_ref": "C",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7596,
"cdna_start": 2685,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438908.1",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.2027G>T",
"hgvs_p": "p.Cys676Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425837.1",
"strand": false,
"transcript": "NM_001438908.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 775,
"aa_ref": "C",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7198,
"cdna_start": 2287,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438909.1",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.1562G>T",
"hgvs_p": "p.Cys521Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425838.1",
"strand": false,
"transcript": "NM_001438909.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 775,
"aa_ref": "C",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6667,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_152629.4",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.1562G>T",
"hgvs_p": "p.Cys521Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689842.3",
"strand": false,
"transcript": "NM_152629.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 775,
"aa_ref": "C",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6671,
"cdna_start": 1766,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000682749.1",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.1562G>T",
"hgvs_p": "p.Cys521Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507306.1",
"strand": false,
"transcript": "ENST00000682749.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 708,
"aa_ref": "C",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7476,
"cdna_start": 2565,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438911.1",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.1361G>T",
"hgvs_p": "p.Cys454Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425840.1",
"strand": false,
"transcript": "NM_001438911.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 708,
"aa_ref": "C",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6990,
"cdna_start": 2079,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438912.1",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.1361G>T",
"hgvs_p": "p.Cys454Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425841.1",
"strand": false,
"transcript": "NM_001438912.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 930,
"aa_ref": "C",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7340,
"cdna_start": 2429,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011517763.3",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.2027G>T",
"hgvs_p": "p.Cys676Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516065.1",
"strand": false,
"transcript": "XM_011517763.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 845,
"aa_ref": "C",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7672,
"cdna_start": 2761,
"cds_end": null,
"cds_length": 2538,
"cds_start": 1772,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047422890.1",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.1772G>T",
"hgvs_p": "p.Cys591Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278846.1",
"strand": false,
"transcript": "XM_047422890.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 775,
"aa_ref": "C",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7740,
"cdna_start": 2829,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011517766.3",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.1562G>T",
"hgvs_p": "p.Cys521Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516068.1",
"strand": false,
"transcript": "XM_011517766.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 775,
"aa_ref": "C",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15015,
"cdna_start": 10104,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017014361.2",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "c.1562G>T",
"hgvs_p": "p.Cys521Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869850.1",
"strand": false,
"transcript": "XM_017014361.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4166,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000461870.5",
"gene_hgnc_id": 28510,
"gene_symbol": "GLIS3",
"hgvs_c": "n.383G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000461870.5",
"transcript_support_level": 2
},
{
"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": 1015,
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