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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: 5-78101011-TTTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=78101011&ref=TTTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"PM4_Supporting",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"disruptive_inframe_deletion"
],
"gene_symbol": "AP3B1",
"hgnc_id": 566,
"hgvs_c": "c.2409_2411delGAA",
"hgvs_p": "p.Lys804del",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -15,
"transcript": "NM_003664.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,BP6_Very_Strong,BS1,BS2",
"acmg_score": -15,
"allele_count_reference_population": 26215,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Autoinflammatory syndrome,Hermansky-Pudlak syndrome,Hermansky-Pudlak syndrome 2,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "KK",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": 2530,
"cds_end": null,
"cds_length": 3285,
"cds_start": 2409,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_003664.5",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2409_2411delGAA",
"hgvs_p": "p.Lys804del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000255194.11",
"protein_coding": true,
"protein_id": "NP_003655.3",
"strand": false,
"transcript": "NM_003664.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "KK",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": 2530,
"cds_end": null,
"cds_length": 3285,
"cds_start": 2409,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000255194.11",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2409_2411delGAA",
"hgvs_p": "p.Lys804del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003664.5",
"protein_coding": true,
"protein_id": "ENSP00000255194.7",
"strand": false,
"transcript": "ENST00000255194.11",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "KK",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14714,
"cdna_start": 2578,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2262,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000519295.7",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2262_2264delGAA",
"hgvs_p": "p.Lys755del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430597.1",
"strand": false,
"transcript": "ENST00000519295.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "KK",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 2559,
"cds_end": null,
"cds_length": 3282,
"cds_start": 2409,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000913629.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2409_2411delGAA",
"hgvs_p": "p.Lys804del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583688.1",
"strand": false,
"transcript": "ENST00000913629.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "KK",
"aa_start": 801,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 2556,
"cds_end": null,
"cds_length": 3279,
"cds_start": 2403,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000909857.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2403_2405delGAA",
"hgvs_p": "p.Lys802del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579916.1",
"strand": false,
"transcript": "ENST00000909857.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "KK",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 3276,
"cds_start": 2409,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000913630.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2409_2411delGAA",
"hgvs_p": "p.Lys804del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583689.1",
"strand": false,
"transcript": "ENST00000913630.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "KK",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 3168,
"cds_start": 2409,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000695515.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2409_2411delGAA",
"hgvs_p": "p.Lys804del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511978.1",
"strand": false,
"transcript": "ENST00000695515.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "KK",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 2569,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2409,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000695511.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2409_2411delGAA",
"hgvs_p": "p.Lys804del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511974.1",
"strand": false,
"transcript": "ENST00000695511.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "KK",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3844,
"cdna_start": 2520,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2409,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000959993.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2409_2411delGAA",
"hgvs_p": "p.Lys804del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630052.1",
"strand": false,
"transcript": "ENST00000959993.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "KK",
"aa_start": 801,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4064,
"cdna_start": 2588,
"cds_end": null,
"cds_length": 3156,
"cds_start": 2403,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000695454.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2403_2405delGAA",
"hgvs_p": "p.Lys802del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511922.1",
"strand": false,
"transcript": "ENST00000695454.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "KK",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3973,
"cdna_start": 2536,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2274,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000695513.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2274_2276delGAA",
"hgvs_p": "p.Lys759del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511976.1",
"strand": false,
"transcript": "ENST00000695513.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "KK",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5796,
"cdna_start": 2542,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2262,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001271769.2",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2262_2264delGAA",
"hgvs_p": "p.Lys755del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258698.1",
"strand": false,
"transcript": "NM_001271769.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "KK",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 2372,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2232,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000909858.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2232_2234delGAA",
"hgvs_p": "p.Lys745del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579917.1",
"strand": false,
"transcript": "ENST00000909858.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "KK",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": 2501,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2352,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000695453.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2352_2354delGAA",
"hgvs_p": "p.Lys785del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511921.1",
"strand": false,
"transcript": "ENST00000695453.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "KK",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3833,
"cdna_start": 2569,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2409,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000695510.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2409_2411delGAA",
"hgvs_p": "p.Lys804del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511973.1",
"strand": false,
"transcript": "ENST00000695510.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "KK",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4015,
"cdna_start": 2539,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2262,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000695455.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2262_2264delGAA",
"hgvs_p": "p.Lys755del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511923.1",
"strand": false,
"transcript": "ENST00000695455.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 986,
"aa_ref": "KK",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3607,
"cdna_start": 2160,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2085,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000913631.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2085_2087delGAA",
"hgvs_p": "p.Lys696del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583690.1",
"strand": false,
"transcript": "ENST00000913631.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 871,
"aa_ref": "KK",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7061,
"cdna_start": 2530,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2409,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001410752.1",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2409_2411delGAA",
"hgvs_p": "p.Lys804del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397681.1",
"strand": false,
"transcript": "NM_001410752.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 871,
"aa_ref": "KK",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3400,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2409,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000519888.6",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2409_2411delGAA",
"hgvs_p": "p.Lys804del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511880.1",
"strand": false,
"transcript": "ENST00000519888.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 863,
"aa_ref": "KK",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3122,
"cdna_start": 2569,
"cds_end": null,
"cds_length": 2592,
"cds_start": 2409,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000517940.2",
"gene_hgnc_id": 566,
"gene_symbol": "AP3B1",
"hgvs_c": "c.2409_2411delGAA",
"hgvs_p": "p.Lys804del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511881.1",
"strand": false,
"transcript": "ENST00000517940.2",
"transcript_support_level": 2
},
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