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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: 1-155688269-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155688269&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "YY1AP1",
"hgnc_id": 30935,
"hgvs_c": "c.196T>C",
"hgvs_p": "p.Ser66Pro",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001198903.1",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DAP3",
"hgnc_id": 2673,
"hgvs_c": "c.-88+77A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "ENST00000878821.1",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"intragenic_variant"
],
"gene_symbol": "LOC124904430",
"hgnc_id": null,
"hgvs_c": "n.155688269A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -16,
"transcript": "",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1049,
"alphamissense_prediction": null,
"alphamissense_score": 0.0807,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "1",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Inborn genetic diseases,YY1AP1-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005141317844390869,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 868,
"aa_ref": "S",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3024,
"cdna_start": 402,
"cds_end": null,
"cds_length": 2607,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000368340.10",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.196T>C",
"hgvs_p": "p.Ser66Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357324.5",
"strand": false,
"transcript": "ENST00000368340.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 495,
"aa_ref": "S",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": 207,
"cds_end": null,
"cds_length": 1488,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000405763.7",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.196T>C",
"hgvs_p": "p.Ser66Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384583.3",
"strand": false,
"transcript": "ENST00000405763.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 750,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_139119.3",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.-151-68T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355499.9",
"protein_coding": true,
"protein_id": "NP_620830.1",
"strand": false,
"transcript": "NM_139119.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 750,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355499.9",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.-151-68T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_139119.3",
"protein_coding": true,
"protein_id": "ENSP00000347686.4",
"strand": false,
"transcript": "ENST00000355499.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 750,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000347088.9",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.-21+390T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000316079.6",
"strand": false,
"transcript": "ENST00000347088.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 750,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2555,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000368330.6",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.-21+661T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357314.2",
"strand": false,
"transcript": "ENST00000368330.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 739,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": null,
"cds_end": null,
"cds_length": 2220,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359205.9",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.-143-68T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352134.5",
"strand": false,
"transcript": "ENST00000359205.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 739,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": null,
"cds_end": null,
"cds_length": 2220,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361831.9",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.-265-68T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355298.5",
"strand": false,
"transcript": "ENST00000361831.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 730,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": null,
"cds_end": null,
"cds_length": 2193,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000404643.5",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.-151-68T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385390.1",
"strand": false,
"transcript": "ENST00000404643.5",
"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": 2701,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361140.8",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "n.-151-68T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000354716.4",
"strand": false,
"transcript": "ENST00000361140.8",
"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": 2684,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000436865.5",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "n.-21+661T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390116.1",
"strand": false,
"transcript": "ENST00000436865.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
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"aa_length": 888,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3074,
"cdna_start": 388,
"cds_end": null,
"cds_length": 2667,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001198903.1",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.196T>C",
"hgvs_p": "p.Ser66Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185832.1",
"strand": false,
"transcript": "NM_001198903.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 888,
"aa_ref": "S",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 392,
"cds_end": null,
"cds_length": 2667,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000368339.10",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.196T>C",
"hgvs_p": "p.Ser66Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357323.5",
"strand": false,
"transcript": "ENST00000368339.10",
"transcript_support_level": 2
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 388,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001198904.1",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.196T>C",
"hgvs_p": "p.Ser66Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185833.1",
"strand": false,
"transcript": "NM_001198904.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 496,
"aa_ref": "S",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3049,
"cdna_start": 402,
"cds_end": null,
"cds_length": 1491,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000715144.1",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.196T>C",
"hgvs_p": "p.Ser66Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520345.1",
"strand": false,
"transcript": "ENST00000715144.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 750,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000879245.1",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.-214T>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000549304.1",
"strand": false,
"transcript": "ENST00000879245.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2166,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000972550.1",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.-219T>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000642609.1",
"strand": false,
"transcript": "ENST00000972550.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": null,
"cds_end": null,
"cds_length": 2160,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000311573.9",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.-286T>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311138.5",
"strand": false,
"transcript": "ENST00000311573.9",
"transcript_support_level": 2
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000879243.1",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.-219T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549302.1",
"strand": false,
"transcript": "ENST00000879243.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 649,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": null,
"cds_end": null,
"cds_length": 1950,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000972551.1",
"gene_hgnc_id": 30935,
"gene_symbol": "YY1AP1",
"hgvs_c": "c.-219T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642610.1",
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