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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: 2-190510415-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=190510415&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NEMP2",
"hgnc_id": 33700,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001142645.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 75,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0786,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11700910329818726,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6172,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001142645.2",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409150.8",
"protein_coding": true,
"protein_id": "NP_001136117.1",
"strand": false,
"transcript": "NM_001142645.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6172,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000409150.8",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001142645.2",
"protein_coding": true,
"protein_id": "ENSP00000386292.3",
"strand": false,
"transcript": "ENST00000409150.8",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 396,
"aa_ref": "R",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1013,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000920104.1",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590163.1",
"strand": false,
"transcript": "ENST00000920104.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1179,
"cds_start": 1106,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017003098.2",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858587.1",
"strand": false,
"transcript": "XM_017003098.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 389,
"aa_ref": "R",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1170,
"cds_start": 1106,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017003099.1",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858588.1",
"strand": false,
"transcript": "XM_017003099.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 387,
"aa_ref": "R",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1164,
"cds_start": 1106,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017003100.2",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858589.1",
"strand": false,
"transcript": "XM_017003100.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 385,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1158,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047441941.1",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297897.1",
"strand": false,
"transcript": "XM_047441941.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1140,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047441946.1",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297902.1",
"strand": false,
"transcript": "XM_047441946.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1134,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011510458.4",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508760.1",
"strand": false,
"transcript": "XM_011510458.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1047,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005246212.4",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246269.1",
"strand": false,
"transcript": "XM_005246212.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6260,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1047,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011510459.4",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508761.1",
"strand": false,
"transcript": "XM_011510459.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6574,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1047,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047441958.1",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297914.1",
"strand": false,
"transcript": "XM_047441958.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 276,
"aa_ref": "R",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6196,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 831,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047441961.1",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297917.1",
"strand": false,
"transcript": "XM_047441961.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6126,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_136298.2",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "n.1097G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_136298.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6716,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XR_007068185.1",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "n.1143G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007068185.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1119,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414176.5",
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"hgvs_c": "n.*337G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404283.1",
"strand": true,
"transcript": "ENST00000414176.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs772426003",
"effect": "missense_variant",
"frequency_reference_population": 0.000048337326,
"gene_hgnc_id": 33700,
"gene_symbol": "NEMP2",
"gnomad_exomes_ac": 69,
"gnomad_exomes_af": 0.000049306,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 6,
"gnomad_genomes_af": 0.0000394291,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.01,
"pos": 190510415,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.097,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001142645.2"
}
]
}