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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: 9-37426545-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37426545&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "GRHPR",
"hgnc_id": 4570,
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99*",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_012203.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 22,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.55,
"chr": "9",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " type II,Primary hyperoxaluria,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.550000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 328,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1250,
"cdna_start": 350,
"cds_end": null,
"cds_length": 987,
"cds_start": 295,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_012203.2",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318158.11",
"protein_coding": true,
"protein_id": "NP_036335.1",
"strand": true,
"transcript": "NM_012203.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 328,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1250,
"cdna_start": 350,
"cds_end": null,
"cds_length": 987,
"cds_start": 295,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000318158.11",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012203.2",
"protein_coding": true,
"protein_id": "ENSP00000313432.6",
"strand": true,
"transcript": "ENST00000318158.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1080,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000460882.5",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "n.322C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000460882.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1136,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000493368.5",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "n.352C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000493368.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": 350,
"cds_end": null,
"cds_length": 1095,
"cds_start": 295,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874646.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544705.1",
"strand": true,
"transcript": "ENST00000874646.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 300,
"cds_end": null,
"cds_length": 1077,
"cds_start": 295,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000607784.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000475569.1",
"strand": true,
"transcript": "ENST00000607784.1",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 356,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": 406,
"cds_end": null,
"cds_length": 1071,
"cds_start": 379,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000874649.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544708.1",
"strand": true,
"transcript": "ENST00000874649.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 333,
"aa_ref": "R",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1256,
"cdna_start": 357,
"cds_end": null,
"cds_length": 1002,
"cds_start": 310,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874647.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544706.1",
"strand": true,
"transcript": "ENST00000874647.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 327,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1267,
"cdna_start": 367,
"cds_end": null,
"cds_length": 984,
"cds_start": 295,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874642.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544701.1",
"strand": true,
"transcript": "ENST00000874642.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 313,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1174,
"cdna_start": 323,
"cds_end": null,
"cds_length": 942,
"cds_start": 295,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874650.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544709.1",
"strand": true,
"transcript": "ENST00000874650.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 364,
"cds_end": null,
"cds_length": 930,
"cds_start": 295,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874645.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544704.1",
"strand": true,
"transcript": "ENST00000874645.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 293,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1386,
"cdna_start": 322,
"cds_end": null,
"cds_length": 882,
"cds_start": 295,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874641.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544700.1",
"strand": true,
"transcript": "ENST00000874641.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 275,
"aa_ref": "R",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1108,
"cdna_start": 205,
"cds_end": null,
"cds_length": 828,
"cds_start": 136,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000874643.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544702.1",
"strand": true,
"transcript": "ENST00000874643.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 218,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 893,
"cdna_start": 328,
"cds_end": null,
"cds_length": 657,
"cds_start": 295,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874648.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544707.1",
"strand": true,
"transcript": "ENST00000874648.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 165,
"aa_ref": "R",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 759,
"cdna_start": 189,
"cds_end": null,
"cds_length": 498,
"cds_start": 136,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000926740.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596799.1",
"strand": true,
"transcript": "ENST00000926740.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 429,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 583,
"cds_end": null,
"cds_length": 1290,
"cds_start": 568,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024447716.2",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Arg190*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303484.1",
"strand": true,
"transcript": "XM_024447716.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 338,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1372,
"cdna_start": 350,
"cds_end": null,
"cds_length": 1017,
"cds_start": 295,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017015320.3",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870809.1",
"strand": true,
"transcript": "XM_017015320.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 350,
"cds_end": null,
"cds_length": 930,
"cds_start": 295,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017015321.3",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870810.1",
"strand": true,
"transcript": "XM_017015321.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 182,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 828,
"cdna_start": null,
"cds_end": null,
"cds_length": 549,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874644.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.56-3187C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544703.1",
"strand": true,
"transcript": "ENST00000874644.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 147,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 719,
"cdna_start": null,
"cds_end": null,
"cds_length": 444,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926739.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.55+3740C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596798.1",
"strand": true,
"transcript": "ENST00000926739.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 111,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 634,
"cdna_start": null,
"cds_end": null,
"cds_length": 336,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926738.1",
"gene_hgnc_id": 4570,
"gene_symbol": "GRHPR",
"hgvs_c": "c.83+3712C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596797.1",
"strand": true,
"transcript": "ENST00000926738.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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