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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: 16-47669238-TGAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=47669238&ref=TGAA&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": "PHKB",
"hgnc_id": 8927,
"hgvs_c": "c.2459_2461delAAG",
"hgvs_p": "p.Glu820del",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -15,
"transcript": "NM_000293.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,BP6_Very_Strong,BS1,BS2",
"acmg_score": -15,
"allele_count_reference_population": 5080,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Glycogen phosphorylase kinase deficiency,Glycogen storage disease IXb,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:4",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "EV",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": 2479,
"cds_end": null,
"cds_length": 3282,
"cds_start": 2459,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_000293.3",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2459_2461delAAG",
"hgvs_p": "p.Glu820del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000323584.10",
"protein_coding": true,
"protein_id": "NP_000284.1",
"strand": true,
"transcript": "NM_000293.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "EV",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": 2479,
"cds_end": null,
"cds_length": 3282,
"cds_start": 2459,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000323584.10",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2459_2461delAAG",
"hgvs_p": "p.Glu820del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000293.3",
"protein_coding": true,
"protein_id": "ENSP00000313504.5",
"strand": true,
"transcript": "ENST00000323584.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "EV",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 2627,
"cds_end": null,
"cds_length": 3261,
"cds_start": 2438,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000566044.5",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2438_2440delAAG",
"hgvs_p": "p.Glu813del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456729.1",
"strand": true,
"transcript": "ENST00000566044.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "EV",
"aa_start": 846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 2539,
"cds_end": null,
"cds_length": 3360,
"cds_start": 2537,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000940565.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2537_2539delAAG",
"hgvs_p": "p.Glu846del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610624.1",
"strand": true,
"transcript": "ENST00000940565.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "EV",
"aa_start": 846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4357,
"cdna_start": 2552,
"cds_end": null,
"cds_length": 3360,
"cds_start": 2537,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000970599.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2537_2539delAAG",
"hgvs_p": "p.Glu846del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640658.1",
"strand": true,
"transcript": "ENST00000970599.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1102,
"aa_ref": "EV",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3968,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 3309,
"cds_start": 2486,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000970601.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2486_2488delAAG",
"hgvs_p": "p.Glu829del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640660.1",
"strand": true,
"transcript": "ENST00000970601.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "EV",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5491,
"cdna_start": 2511,
"cds_end": null,
"cds_length": 3282,
"cds_start": 2459,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001363837.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2459_2461delAAG",
"hgvs_p": "p.Glu820del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350766.1",
"strand": true,
"transcript": "NM_001363837.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "EV",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5464,
"cdna_start": 2484,
"cds_end": null,
"cds_length": 3282,
"cds_start": 2459,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000299167.12",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2459_2461delAAG",
"hgvs_p": "p.Glu820del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000299167.8",
"strand": true,
"transcript": "ENST00000299167.12",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "EV",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2461,
"cds_end": null,
"cds_length": 3276,
"cds_start": 2453,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000970603.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2453_2455delAAG",
"hgvs_p": "p.Glu818del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640662.1",
"strand": true,
"transcript": "ENST00000970603.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1088,
"aa_ref": "EV",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 3267,
"cds_start": 2444,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000970604.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2444_2446delAAG",
"hgvs_p": "p.Glu815del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640663.1",
"strand": true,
"transcript": "ENST00000970604.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "EV",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5571,
"cdna_start": 2591,
"cds_end": null,
"cds_length": 3261,
"cds_start": 2438,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001031835.3",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2438_2440delAAG",
"hgvs_p": "p.Glu813del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001027005.1",
"strand": true,
"transcript": "NM_001031835.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1080,
"aa_ref": "EV",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3570,
"cdna_start": 2474,
"cds_end": null,
"cds_length": 3243,
"cds_start": 2420,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000970606.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2420_2422delAAG",
"hgvs_p": "p.Glu807del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640665.1",
"strand": true,
"transcript": "ENST00000970606.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "EV",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 3204,
"cds_start": 2381,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000868353.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2381_2383delAAG",
"hgvs_p": "p.Glu794del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538412.1",
"strand": true,
"transcript": "ENST00000868353.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "EV",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 3204,
"cds_start": 2381,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000970600.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2381_2383delAAG",
"hgvs_p": "p.Glu794del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640659.1",
"strand": true,
"transcript": "ENST00000970600.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "EV",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4408,
"cdna_start": 2574,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2354,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000868352.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2354_2356delAAG",
"hgvs_p": "p.Glu785del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538411.1",
"strand": true,
"transcript": "ENST00000868352.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "EV",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 2315,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2300,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000970605.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2300_2302delAAG",
"hgvs_p": "p.Glu767del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640664.1",
"strand": true,
"transcript": "ENST00000970605.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1033,
"aa_ref": "EV",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4115,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 3102,
"cds_start": 2279,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000970598.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2279_2281delAAG",
"hgvs_p": "p.Glu760del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640657.1",
"strand": true,
"transcript": "ENST00000970598.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 941,
"aa_ref": "EV",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 2018,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2003,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000970602.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2003_2005delAAG",
"hgvs_p": "p.Glu668del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640661.1",
"strand": true,
"transcript": "ENST00000970602.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 210,
"aa_ref": "EV",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1375,
"cdna_start": 380,
"cds_end": null,
"cds_length": 633,
"cds_start": 380,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000566275.2",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.380_382delAAG",
"hgvs_p": "p.Glu127del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459287.1",
"strand": true,
"transcript": "ENST00000566275.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 995,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": null,
"cds_end": null,
"cds_length": 2988,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868354.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.2336+5512_2336+5514delAAG",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538413.1",
"strand": true,
"transcript": "ENST00000868354.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
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}