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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: 8-37751672-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=37751672&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ERLIN2",
"hgnc_id": 1356,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_007175.8",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -19,
"allele_count_reference_population": 8345,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "8",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Hereditary spastic paraplegia,Spastic paraplegia,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3400000035762787,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5387,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_007175.8",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000519638.3",
"protein_coding": true,
"protein_id": "NP_009106.1",
"strand": true,
"transcript": "NM_007175.8",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5387,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000519638.3",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007175.8",
"protein_coding": true,
"protein_id": "ENSP00000428112.1",
"strand": true,
"transcript": "ENST00000519638.3",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 369,
"aa_ref": "K",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1362,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1110,
"cds_start": 786,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000963384.1",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Lys262Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633443.1",
"strand": true,
"transcript": "ENST00000963384.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5716,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001362878.2",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349807.1",
"strand": true,
"transcript": "NM_001362878.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5111,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000861237.1",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531296.1",
"strand": true,
"transcript": "ENST00000861237.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5111,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000861238.1",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531297.1",
"strand": true,
"transcript": "ENST00000861238.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4731,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000861239.1",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531298.1",
"strand": true,
"transcript": "ENST00000861239.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4522,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000861240.1",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531299.1",
"strand": true,
"transcript": "ENST00000861240.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000861241.1",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531300.1",
"strand": true,
"transcript": "ENST00000861241.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000861242.1",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531301.1",
"strand": true,
"transcript": "ENST00000861242.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1216,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000861243.1",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531302.1",
"strand": true,
"transcript": "ENST00000861243.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1452,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000861244.1",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531303.1",
"strand": true,
"transcript": "ENST00000861244.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1480,
"cdna_start": 912,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000963383.1",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633442.1",
"strand": true,
"transcript": "ENST00000963383.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 337,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1016,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000521644.5",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429621.1",
"strand": true,
"transcript": "ENST00000521644.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 196,
"aa_ref": "K",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 663,
"cdna_start": 638,
"cds_end": null,
"cds_length": 592,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000518526.5",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.567G>A",
"hgvs_p": "p.Lys189Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429229.1",
"strand": true,
"transcript": "ENST00000518526.5",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 339,
"aa_ref": "K",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5814,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1020,
"cds_start": 696,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047421307.1",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Lys232Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277263.1",
"strand": true,
"transcript": "XM_047421307.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 257,
"aa_ref": "K",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5156,
"cdna_start": 525,
"cds_end": null,
"cds_length": 774,
"cds_start": 450,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047421308.1",
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Lys150Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277264.1",
"strand": true,
"transcript": "XM_047421308.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs138164407",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0051705763,
"gene_hgnc_id": 1356,
"gene_symbol": "ERLIN2",
"gnomad_exomes_ac": 7876,
"gnomad_exomes_af": 0.00538874,
"gnomad_exomes_homalt": 23,
"gnomad_genomes_ac": 469,
"gnomad_genomes_af": 0.00307795,
"gnomad_genomes_homalt": 4,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 27,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|Spastic paraplegia|not provided|Hereditary spastic paraplegia",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.331,
"pos": 37751672,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_007175.8"
}
]
}