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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: X-54042732-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=54042732&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PHF8",
"hgnc_id": 20672,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Ala35Ala",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001184896.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "X",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6024,
"cdna_start": 464,
"cds_end": null,
"cds_length": 3183,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000357988.9",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Ala35Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350676.5",
"strand": false,
"transcript": "ENST00000357988.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1024,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": null,
"cds_end": null,
"cds_length": 3075,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_015107.3",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.-4G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338154.11",
"protein_coding": true,
"protein_id": "NP_055922.1",
"strand": false,
"transcript": "NM_015107.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1024,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": null,
"cds_end": null,
"cds_length": 3075,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000338154.11",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.-4G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015107.3",
"protein_coding": true,
"protein_id": "ENSP00000338868.6",
"strand": false,
"transcript": "ENST00000338154.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 878,
"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": 2637,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000322659.12",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.-4G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319473.8",
"strand": false,
"transcript": "ENST00000322659.12",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5907,
"cdna_start": 351,
"cds_end": null,
"cds_length": 3183,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001184896.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Ala35Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171825.1",
"strand": false,
"transcript": "NM_001184896.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 984,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4502,
"cdna_start": 351,
"cds_end": null,
"cds_length": 2955,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001441096.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Ala35Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428025.1",
"strand": false,
"transcript": "NM_001441096.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 931,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3791,
"cdna_start": 351,
"cds_end": null,
"cds_length": 2796,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001441097.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Ala35Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428026.1",
"strand": false,
"transcript": "NM_001441097.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 830,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 351,
"cds_end": null,
"cds_length": 2493,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001441098.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Ala35Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428027.1",
"strand": false,
"transcript": "NM_001441098.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 534,
"cdna_start": 195,
"cds_end": null,
"cds_length": 444,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000453905.5",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Ala35Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405897.1",
"strand": false,
"transcript": "ENST00000453905.5",
"transcript_support_level": 4
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4650,
"cdna_start": 196,
"cds_end": null,
"cds_length": 3258,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005261996.2",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Ala35Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005262053.1",
"strand": false,
"transcript": "XM_005261996.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4708,
"cdna_start": 254,
"cds_end": null,
"cds_length": 3258,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011530778.2",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Ala35Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529080.1",
"strand": false,
"transcript": "XM_011530778.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 1060,
"aa_ref": "A",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5782,
"cdna_start": 226,
"cds_end": null,
"cds_length": 3183,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047441934.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Ala35Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297890.1",
"strand": false,
"transcript": "XM_047441934.1",
"transcript_support_level": null
},
{
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"aa_length": 1043,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5854,
"cdna_start": null,
"cds_end": null,
"cds_length": 3132,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930625.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.-4G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600684.1",
"strand": false,
"transcript": "ENST00000930625.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1026,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5838,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930624.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.-4G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600683.1",
"strand": false,
"transcript": "ENST00000930624.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5849,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000874043.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.-4G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544102.1",
"strand": false,
"transcript": "ENST00000874043.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1024,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6095,
"cdna_start": null,
"cds_end": null,
"cds_length": 3075,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930622.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.-4G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600681.1",
"strand": false,
"transcript": "ENST00000930622.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1013,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5800,
"cdna_start": null,
"cds_end": null,
"cds_length": 3042,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930623.1",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.-4G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600682.1",
"strand": false,
"transcript": "ENST00000930623.1",
"transcript_support_level": null
},
{
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"aa_length": 948,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4952,
"cdna_start": null,
"cds_end": null,
"cds_length": 2847,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001184897.2",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.-4G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171826.1",
"strand": false,
"transcript": "NM_001184897.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 878,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3515,
"cdna_start": null,
"cds_end": null,
"cds_length": 2637,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001184898.2",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.-4G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171827.1",
"strand": false,
"transcript": "NM_001184898.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 125,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 565,
"cdna_start": null,
"cds_end": null,
"cds_length": 378,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000425862.5",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.-4G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408113.1",
"strand": false,
"transcript": "ENST00000425862.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 114,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 555,
"cdna_start": null,
"cds_end": null,
"cds_length": 345,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000437224.5",
"gene_hgnc_id": 20672,
"gene_symbol": "PHF8",
"hgvs_c": "c.-4G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398995.1",
"strand": false,
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