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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: 8-37744590-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=37744590&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 37744590,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000519638.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "NM_007175.8",
"protein_id": "NP_009106.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 339,
"cds_start": 318,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "ENST00000519638.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000519638.3",
"protein_id": "ENSP00000428112.1",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 339,
"cds_start": 318,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "NM_007175.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000335171.10",
"protein_id": "ENSP00000335220.6",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 152,
"cds_start": 318,
"cds_end": null,
"cds_length": 459,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "NM_001362878.2",
"protein_id": "NP_001349807.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 339,
"cds_start": 318,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000521644.5",
"protein_id": "ENSP00000429621.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 337,
"cds_start": 318,
"cds_end": null,
"cds_length": 1016,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000518586.5",
"protein_id": "ENSP00000427847.1",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 206,
"cds_start": 318,
"cds_end": null,
"cds_length": 621,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000523107.5",
"protein_id": "ENSP00000473292.1",
"transcript_support_level": 3,
"aa_start": 106,
"aa_end": null,
"aa_length": 206,
"cds_start": 318,
"cds_end": null,
"cds_length": 621,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000523887.5",
"protein_id": "ENSP00000429903.1",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 206,
"cds_start": 318,
"cds_end": null,
"cds_length": 621,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.189C>T",
"hgvs_p": "p.Asn63Asn",
"transcript": "ENST00000518526.5",
"protein_id": "ENSP00000429229.1",
"transcript_support_level": 3,
"aa_start": 63,
"aa_end": null,
"aa_length": 196,
"cds_start": 189,
"cds_end": null,
"cds_length": 592,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "NM_001003790.4",
"protein_id": "NP_001003790.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 152,
"cds_start": 318,
"cds_end": null,
"cds_length": 459,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "NM_001003791.3",
"protein_id": "NP_001003791.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 152,
"cds_start": 318,
"cds_end": null,
"cds_length": 459,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "NM_001362880.2",
"protein_id": "NP_001349809.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 152,
"cds_start": 318,
"cds_end": null,
"cds_length": 459,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000648919.1",
"protein_id": "ENSP00000497100.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 152,
"cds_start": 318,
"cds_end": null,
"cds_length": 459,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "XM_047421307.1",
"protein_id": "XP_047277263.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 339,
"cds_start": 318,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Asn24Asn",
"transcript": "XM_047421308.1",
"protein_id": "XP_047277264.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 257,
"cds_start": 72,
"cds_end": null,
"cds_length": 774,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 5156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "n.247C>T",
"hgvs_p": null,
"transcript": "ENST00000521993.3",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000183154",
"gene_hgnc_id": null,
"hgvs_c": "n.676-1161G>A",
"hgvs_p": null,
"transcript": "ENST00000770403.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "n.*174C>T",
"hgvs_p": null,
"transcript": "ENST00000647813.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"dbsnp": "rs16887018",
"frequency_reference_population": 0.0046528573,
"hom_count_reference_population": 270,
"allele_count_reference_population": 7510,
"gnomad_exomes_af": 0.00269047,
"gnomad_genomes_af": 0.0234967,
"gnomad_exomes_ac": 3933,
"gnomad_genomes_ac": 3577,
"gnomad_exomes_homalt": 132,
"gnomad_genomes_homalt": 138,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.28999999165534973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.373,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000519638.3",
"gene_symbol": "ERLIN2",
"hgnc_id": 1356,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn"
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000770403.1",
"gene_symbol": "ENSG00000183154",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.676-1161G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary spastic paraplegia,Spastic paraplegia,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|Spastic paraplegia|Hereditary spastic paraplegia|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}