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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: 8-37754094-GACGGCC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=37754094&ref=GACGGCC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 37754094,
"ref": "GACGGCC",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_007175.8",
"consequences": [
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "NM_007175.8",
"protein_id": "NP_009106.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "ENST00000519638.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007175.8"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "ENST00000519638.3",
"protein_id": "ENSP00000428112.1",
"transcript_support_level": 2,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "NM_007175.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519638.3"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1092_1097delGGCCAC",
"hgvs_p": "p.Ala365_Thr366del",
"transcript": "ENST00000963384.1",
"protein_id": "ENSP00000633443.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 369,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963384.1"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "NM_001362878.2",
"protein_id": "NP_001349807.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362878.2"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "ENST00000861237.1",
"protein_id": "ENSP00000531296.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861237.1"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "ENST00000861238.1",
"protein_id": "ENSP00000531297.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861238.1"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "ENST00000861239.1",
"protein_id": "ENSP00000531298.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861239.1"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "ENST00000861240.1",
"protein_id": "ENSP00000531299.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 4522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861240.1"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "ENST00000861241.1",
"protein_id": "ENSP00000531300.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861241.1"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "ENST00000861242.1",
"protein_id": "ENSP00000531301.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861242.1"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "ENST00000861243.1",
"protein_id": "ENSP00000531302.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 1216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861243.1"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "ENST00000861244.1",
"protein_id": "ENSP00000531303.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861244.1"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "ENST00000963383.1",
"protein_id": "ENSP00000633442.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963383.1"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "ENST00000521644.5",
"protein_id": "ENSP00000429621.1",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 337,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1016,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521644.5"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del",
"transcript": "XM_047421307.1",
"protein_id": "XP_047277263.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 339,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421307.1"
},
{
"aa_ref": "TAT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.756_761delGGCCAC",
"hgvs_p": "p.Ala253_Thr254del",
"transcript": "XM_047421308.1",
"protein_id": "XP_047277264.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 257,
"cds_start": 756,
"cds_end": null,
"cds_length": 774,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 5156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421308.1"
}
],
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"dbsnp": "rs797045563",
"frequency_reference_population": 0.000009914156,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102622,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.569,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007175.8",
"gene_symbol": "ERLIN2",
"hgnc_id": 1356,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1002_1007delGGCCAC",
"hgvs_p": "p.Ala335_Thr336del"
}
],
"clinvar_disease": "Spastic paraplegia,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Spastic paraplegia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}