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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: 6-149680103-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=149680103&ref=C&alt=G&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": "LATS1",
"hgnc_id": 6514,
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_004690.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9996,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Ependymoma",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8895646333694458,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7362,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 3393,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004690.4",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000543571.6",
"protein_coding": true,
"protein_id": "NP_004681.1",
"strand": false,
"transcript": "NM_004690.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7362,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 3393,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000543571.6",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004690.4",
"protein_coding": true,
"protein_id": "ENSP00000437550.1",
"strand": false,
"transcript": "ENST00000543571.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4256,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 3393,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000253339.9",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000253339.5",
"strand": false,
"transcript": "ENST00000253339.9",
"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": 3879,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000441107.5",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "n.*2052G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403815.1",
"strand": false,
"transcript": "ENST00000441107.5",
"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": 3879,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000441107.5",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "n.*2052G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403815.1",
"strand": false,
"transcript": "ENST00000441107.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7440,
"cdna_start": 2737,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852166.1",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522225.1",
"strand": false,
"transcript": "ENST00000852166.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7441,
"cdna_start": 2738,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916254.1",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586313.1",
"strand": false,
"transcript": "ENST00000916254.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4311,
"cdna_start": 2665,
"cds_end": null,
"cds_length": 3393,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852165.1",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522224.1",
"strand": false,
"transcript": "ENST00000852165.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7331,
"cdna_start": 2730,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916255.1",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586314.1",
"strand": false,
"transcript": "ENST00000916255.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "D",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7556,
"cdna_start": 2853,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2050,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001350339.2",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2050G>C",
"hgvs_p": "p.Asp684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337268.1",
"strand": false,
"transcript": "NM_001350339.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "D",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7457,
"cdna_start": 2853,
"cds_end": null,
"cds_length": 3078,
"cds_start": 2050,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001350340.2",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2050G>C",
"hgvs_p": "p.Asp684His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337269.1",
"strand": false,
"transcript": "NM_001350340.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 850,
"aa_ref": "D",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7214,
"cdna_start": 2610,
"cds_end": null,
"cds_length": 2553,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001350392.2",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.1525G>C",
"hgvs_p": "p.Asp509His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337321.1",
"strand": false,
"transcript": "NM_001350392.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7461,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017011474.2",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866963.1",
"strand": false,
"transcript": "XM_017011474.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7916,
"cdna_start": 3213,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024446583.2",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302351.1",
"strand": false,
"transcript": "XM_024446583.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7312,
"cdna_start": 2609,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047419517.1",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275473.1",
"strand": false,
"transcript": "XM_047419517.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7213,
"cdna_start": 2609,
"cds_end": null,
"cds_length": 3393,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047419518.1",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275474.1",
"strand": false,
"transcript": "XM_047419518.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4544,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017011477.2",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866966.1",
"strand": false,
"transcript": "XM_017011477.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1001,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 3006,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011536252.3",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534554.1",
"strand": false,
"transcript": "XM_011536252.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 996,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 2991,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047419519.1",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275475.1",
"strand": false,
"transcript": "XM_047419519.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 993,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3400,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017011479.2",
"gene_hgnc_id": 6514,
"gene_symbol": "LATS1",
"hgvs_c": "c.2365G>C",
"hgvs_p": "p.Asp789His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866968.1",
"strand": false,
"transcript": "XM_017011479.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 886,
"aa_ref": "D",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 2661,
"cds_start": 2365,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006715603.4",
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