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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: 9-112454063-CGT-GGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=112454063&ref=CGT&alt=GGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "HSDL2",
"hgnc_id": 18572,
"hgvs_c": "c.916_918delCGTinsGGA",
"hgvs_p": "p.Arg306Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_032303.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "HSDL2-AS1",
"hgnc_id": 31438,
"hgvs_c": "n.479_481delACGinsTCC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NR_171777.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3174,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1257,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032303.5",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.916_918delCGTinsGGA",
"hgvs_p": "p.Arg306Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398805.8",
"protein_coding": true,
"protein_id": "NP_115679.2",
"strand": true,
"transcript": "NM_032303.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3174,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1257,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398805.8",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.916_918delCGTinsGGA",
"hgvs_p": "p.Arg306Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032303.5",
"protein_coding": true,
"protein_id": "ENSP00000381785.3",
"strand": true,
"transcript": "ENST00000398805.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 345,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1038,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398803.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.697_699delCGTinsGGA",
"hgvs_p": "p.Arg233Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381783.1",
"strand": true,
"transcript": "ENST00000398803.1",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3204,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 1251,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942135.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.910_912delCGTinsGGA",
"hgvs_p": "p.Arg304Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612194.1",
"strand": true,
"transcript": "ENST00000942135.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1251,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942137.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.916_918delCGTinsGGA",
"hgvs_p": "p.Arg306Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612196.1",
"strand": true,
"transcript": "ENST00000942137.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 415,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1248,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860570.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.907_909delCGTinsGGA",
"hgvs_p": "p.Arg303Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530629.1",
"strand": true,
"transcript": "ENST00000860570.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1179,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860574.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.838_840delCGTinsGGA",
"hgvs_p": "p.Arg280Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530633.1",
"strand": true,
"transcript": "ENST00000860574.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 385,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3073,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1158,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860569.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.817_819delCGTinsGGA",
"hgvs_p": "p.Arg273Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530628.1",
"strand": true,
"transcript": "ENST00000860569.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 385,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1241,
"cdna_start": 865,
"cds_end": null,
"cds_length": 1158,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860575.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.817_819delCGTinsGGA",
"hgvs_p": "p.Arg273Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530634.1",
"strand": true,
"transcript": "ENST00000860575.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3036,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1128,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942139.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.916_918delCGTinsGGA",
"hgvs_p": "p.Arg306Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612198.1",
"strand": true,
"transcript": "ENST00000942139.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1062,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860566.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.721_723delCGTinsGGA",
"hgvs_p": "p.Arg241Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530625.1",
"strand": true,
"transcript": "ENST00000860566.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 345,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1038,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001195822.2",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.697_699delCGTinsGGA",
"hgvs_p": "p.Arg233Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182751.1",
"strand": true,
"transcript": "NM_001195822.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 791,
"cds_end": null,
"cds_length": 1032,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942134.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.691_693delCGTinsGGA",
"hgvs_p": "p.Arg231Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612193.1",
"strand": true,
"transcript": "ENST00000942134.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "R",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2926,
"cdna_start": 726,
"cds_end": null,
"cds_length": 990,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860568.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.649_651delCGTinsGGA",
"hgvs_p": "p.Arg217Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530627.1",
"strand": true,
"transcript": "ENST00000860568.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 312,
"aa_ref": "R",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 691,
"cds_end": null,
"cds_length": 939,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860567.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.598_600delCGTinsGGA",
"hgvs_p": "p.Arg200Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530626.1",
"strand": true,
"transcript": "ENST00000860567.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 312,
"aa_ref": "R",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 685,
"cds_end": null,
"cds_length": 939,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942136.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.598_600delCGTinsGGA",
"hgvs_p": "p.Arg200Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612195.1",
"strand": true,
"transcript": "ENST00000942136.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 311,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 655,
"cds_end": null,
"cds_length": 936,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942140.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.595_597delCGTinsGGA",
"hgvs_p": "p.Arg199Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612199.1",
"strand": true,
"transcript": "ENST00000942140.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 292,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2846,
"cdna_start": 644,
"cds_end": null,
"cds_length": 879,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860565.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.538_540delCGTinsGGA",
"hgvs_p": "p.Arg180Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530624.1",
"strand": true,
"transcript": "ENST00000860565.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 280,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 557,
"cds_end": null,
"cds_length": 843,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929491.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.502_504delCGTinsGGA",
"hgvs_p": "p.Arg168Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599550.1",
"strand": true,
"transcript": "ENST00000929491.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 571,
"cds_end": null,
"cds_length": 840,
"cds_start": 499,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860573.1",
"gene_hgnc_id": 18572,
"gene_symbol": "HSDL2",
"hgvs_c": "c.499_501delCGTinsGGA",
"hgvs_p": "p.Arg167Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530632.1",
"strand": true,
"transcript": "ENST00000860573.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 247,
"aa_ref": "R",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
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