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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-111744768-ACCTCCTCCTCCTCCTCCTCCTCCT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111744768&ref=ACCTCCTCCTCCTCCTCCTCCTCCT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP3"
],
"effects": [
"conservative_inframe_deletion"
],
"gene_symbol": "ALG13",
"hgnc_id": 30881,
"hgvs_c": "c.2812_2835delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro938_Pro945del",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_001099922.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 36,Developmental and epileptic encephalopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1137,
"aa_ref": "PPPPPPPP",
"aa_start": 938,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4113,
"cdna_start": 2861,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2812,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001099922.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2812_2835delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro938_Pro945del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394780.8",
"protein_coding": true,
"protein_id": "NP_001093392.1",
"strand": true,
"transcript": "NM_001099922.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1137,
"aa_ref": "PPPPPPPP",
"aa_start": 938,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4113,
"cdna_start": 2861,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2812,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000394780.8",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2812_2835delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro938_Pro945del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001099922.3",
"protein_coding": true,
"protein_id": "ENSP00000378260.3",
"strand": true,
"transcript": "ENST00000394780.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1129,
"aa_ref": "PPPPPPPP",
"aa_start": 930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4091,
"cdna_start": 2839,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2788,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000927365.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2788_2811delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro930_Pro937del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597424.1",
"strand": true,
"transcript": "ENST00000927365.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1079,
"aa_ref": "PPPPPPPP",
"aa_start": 880,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 3240,
"cds_start": 2638,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000927366.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2638_2661delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro880_Pro887del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597425.1",
"strand": true,
"transcript": "ENST00000927366.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1059,
"aa_ref": "PPPPPPPP",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4179,
"cdna_start": 2927,
"cds_end": null,
"cds_length": 3180,
"cds_start": 2578,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001257231.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2578_2601delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro860_Pro867del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244160.1",
"strand": true,
"transcript": "NM_001257231.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1161,
"aa_ref": "PPPPPPPP",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 2933,
"cds_end": null,
"cds_length": 3486,
"cds_start": 2884,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011531028.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2884_2907delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro962_Pro969del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529330.1",
"strand": true,
"transcript": "XM_011531028.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1153,
"aa_ref": "PPPPPPPP",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 2909,
"cds_end": null,
"cds_length": 3462,
"cds_start": 2860,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017029846.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2860_2883delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro954_Pro961del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885335.1",
"strand": true,
"transcript": "XM_017029846.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1148,
"aa_ref": "PPPPPPPP",
"aa_start": 949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 2894,
"cds_end": null,
"cds_length": 3447,
"cds_start": 2845,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017029847.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2845_2868delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro949_Pro956del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885336.1",
"strand": true,
"transcript": "XM_017029847.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1129,
"aa_ref": "PPPPPPPP",
"aa_start": 930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4089,
"cdna_start": 2837,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2788,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047442520.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2788_2811delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro930_Pro937del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298476.1",
"strand": true,
"transcript": "XM_047442520.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1124,
"aa_ref": "PPPPPPPP",
"aa_start": 925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4074,
"cdna_start": 2822,
"cds_end": null,
"cds_length": 3375,
"cds_start": 2773,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_006724693.4",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2773_2796delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro925_Pro932del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724756.1",
"strand": true,
"transcript": "XM_006724693.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1104,
"aa_ref": "PPPPPPPP",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4014,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2713,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047442521.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2713_2736delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro905_Pro912del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298477.1",
"strand": true,
"transcript": "XM_047442521.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1080,
"aa_ref": "PPPPPPPP",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3942,
"cdna_start": 2690,
"cds_end": null,
"cds_length": 3243,
"cds_start": 2641,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047442522.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2641_2664delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro881_Pro888del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298478.1",
"strand": true,
"transcript": "XM_047442522.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1057,
"aa_ref": "PPPPPPPP",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4081,
"cdna_start": 2829,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2572,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_006724697.4",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2572_2595delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro858_Pro865del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724760.2",
"strand": true,
"transcript": "XM_006724697.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1057,
"aa_ref": "PPPPPPPP",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4206,
"cdna_start": 2954,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2572,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_006724698.4",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2572_2595delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro858_Pro865del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724761.2",
"strand": true,
"transcript": "XM_006724698.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1057,
"aa_ref": "PPPPPPPP",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4310,
"cdna_start": 3058,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2572,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011531031.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2572_2595delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro858_Pro865del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529333.1",
"strand": true,
"transcript": "XM_011531031.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1057,
"aa_ref": "PPPPPPPP",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 2869,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2572,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011531032.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2572_2595delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro858_Pro865del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529334.1",
"strand": true,
"transcript": "XM_011531032.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1057,
"aa_ref": "PPPPPPPP",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4225,
"cdna_start": 2973,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2572,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011531033.4",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2572_2595delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro858_Pro865del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529335.1",
"strand": true,
"transcript": "XM_011531033.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1033,
"aa_ref": "PPPPPPPP",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 2797,
"cds_end": null,
"cds_length": 3102,
"cds_start": 2500,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047442524.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2500_2523delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro834_Pro841del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298480.1",
"strand": true,
"transcript": "XM_047442524.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 958,
"aa_ref": "PPPPPPPP",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2275,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011531034.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2275_2298delCCTCCTCCTCCTCCTCCTCCTCCT",
"hgvs_p": "p.Pro759_Pro766del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529336.1",
"strand": true,
"transcript": "XM_011531034.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 893,
"aa_ref": "PPPPPPPP",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3570,
"cdna_start": 2318,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2080,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
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