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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-20187890-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=20187890&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "RPS6KA3",
"hgnc_id": 10432,
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Glu238*",
"inheritance_mode": "AD,XL",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_004586.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 740,
"aa_ref": "E",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7987,
"cdna_start": 989,
"cds_end": null,
"cds_length": 2223,
"cds_start": 712,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_004586.3",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Glu238*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379565.9",
"protein_coding": true,
"protein_id": "NP_004577.1",
"strand": false,
"transcript": "NM_004586.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 740,
"aa_ref": "E",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7987,
"cdna_start": 989,
"cds_end": null,
"cds_length": 2223,
"cds_start": 712,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000379565.9",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Glu238*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004586.3",
"protein_coding": true,
"protein_id": "ENSP00000368884.3",
"strand": false,
"transcript": "ENST00000379565.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4256,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 2271,
"cds_start": 760,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000952699.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Glu254*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622758.1",
"strand": false,
"transcript": "ENST00000952699.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 746,
"aa_ref": "E",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3211,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 2241,
"cds_start": 712,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916293.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Glu238*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586352.1",
"strand": false,
"transcript": "ENST00000916293.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 745,
"aa_ref": "E",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 990,
"cds_end": null,
"cds_length": 2238,
"cds_start": 712,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000952703.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Glu238*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622762.1",
"strand": false,
"transcript": "ENST00000952703.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 742,
"aa_ref": "E",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 2229,
"cds_start": 712,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000952700.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Glu238*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622759.1",
"strand": false,
"transcript": "ENST00000952700.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 738,
"aa_ref": "E",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 2217,
"cds_start": 712,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916295.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Glu238*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586354.1",
"strand": false,
"transcript": "ENST00000916295.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 737,
"aa_ref": "E",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 2214,
"cds_start": 712,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916291.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Glu238*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586350.1",
"strand": false,
"transcript": "ENST00000916291.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 727,
"aa_ref": "E",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 897,
"cds_end": null,
"cds_length": 2184,
"cds_start": 655,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952702.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.655G>T",
"hgvs_p": "p.Glu219*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622761.1",
"strand": false,
"transcript": "ENST00000952702.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 721,
"aa_ref": "E",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 964,
"cds_end": null,
"cds_length": 2166,
"cds_start": 655,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000916294.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.655G>T",
"hgvs_p": "p.Glu219*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586353.1",
"strand": false,
"transcript": "ENST00000916294.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 713,
"aa_ref": "E",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4147,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 2142,
"cds_start": 631,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952698.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.631G>T",
"hgvs_p": "p.Glu211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622757.1",
"strand": false,
"transcript": "ENST00000952698.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "E",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7693,
"cdna_start": 695,
"cds_end": null,
"cds_length": 2139,
"cds_start": 628,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001438340.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Glu210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425269.1",
"strand": false,
"transcript": "NM_001438340.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "E",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2841,
"cdna_start": 910,
"cds_end": null,
"cds_length": 2139,
"cds_start": 628,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000642835.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Glu210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494769.1",
"strand": false,
"transcript": "ENST00000642835.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "E",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4064,
"cdna_start": 817,
"cds_end": null,
"cds_length": 2139,
"cds_start": 628,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000643085.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Glu210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496271.1",
"strand": false,
"transcript": "ENST00000643085.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "E",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3054,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 2139,
"cds_start": 628,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000643337.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Glu210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493487.1",
"strand": false,
"transcript": "ENST00000643337.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "E",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 975,
"cds_end": null,
"cds_length": 2139,
"cds_start": 628,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000643402.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Glu210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493862.1",
"strand": false,
"transcript": "ENST00000643402.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "E",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 833,
"cds_end": null,
"cds_length": 2139,
"cds_start": 628,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000644368.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Glu210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495776.1",
"strand": false,
"transcript": "ENST00000644368.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "E",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 859,
"cds_end": null,
"cds_length": 2139,
"cds_start": 628,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000645270.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Glu210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494967.1",
"strand": false,
"transcript": "ENST00000645270.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "E",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 705,
"cds_end": null,
"cds_length": 2139,
"cds_start": 628,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000646610.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Glu210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495462.1",
"strand": false,
"transcript": "ENST00000646610.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "E",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 893,
"cds_end": null,
"cds_length": 2139,
"cds_start": 628,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000647265.1",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Glu210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494220.1",
"strand": false,
"transcript": "ENST00000647265.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 711,
"aa_ref": "E",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 746,
"cds_end": null,
"cds_length": 2136,
"cds_start": 625,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000457145.6",
"gene_hgnc_id": 10432,
"gene_symbol": "RPS6KA3",
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