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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: 2-151275562-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151275562&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151275562,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004688.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMI",
"gene_hgnc_id": 7854,
"hgvs_c": "c.556A>C",
"hgvs_p": "p.Asn186His",
"transcript": "NM_004688.3",
"protein_id": "NP_004679.2",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 307,
"cds_start": 556,
"cds_end": null,
"cds_length": 924,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 1229,
"mane_select": "ENST00000243346.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004688.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMI",
"gene_hgnc_id": 7854,
"hgvs_c": "c.556A>C",
"hgvs_p": "p.Asn186His",
"transcript": "ENST00000243346.10",
"protein_id": "ENSP00000243346.5",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 307,
"cds_start": 556,
"cds_end": null,
"cds_length": 924,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 1229,
"mane_select": "NM_004688.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243346.10"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMI",
"gene_hgnc_id": 7854,
"hgvs_c": "c.556A>C",
"hgvs_p": "p.Asn186His",
"transcript": "ENST00000883657.1",
"protein_id": "ENSP00000553716.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 307,
"cds_start": 556,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883657.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMI",
"gene_hgnc_id": 7854,
"hgvs_c": "c.556A>C",
"hgvs_p": "p.Asn186His",
"transcript": "ENST00000883659.1",
"protein_id": "ENSP00000553718.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 307,
"cds_start": 556,
"cds_end": null,
"cds_length": 924,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883659.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMI",
"gene_hgnc_id": 7854,
"hgvs_c": "c.556A>C",
"hgvs_p": "p.Asn186His",
"transcript": "ENST00000883660.1",
"protein_id": "ENSP00000553719.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 307,
"cds_start": 556,
"cds_end": null,
"cds_length": 924,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883660.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMI",
"gene_hgnc_id": 7854,
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Asn154His",
"transcript": "ENST00000883656.1",
"protein_id": "ENSP00000553715.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 275,
"cds_start": 460,
"cds_end": null,
"cds_length": 828,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883656.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMI",
"gene_hgnc_id": 7854,
"hgvs_c": "c.286A>C",
"hgvs_p": "p.Asn96His",
"transcript": "ENST00000930648.1",
"protein_id": "ENSP00000600707.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 217,
"cds_start": 286,
"cds_end": null,
"cds_length": 654,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930648.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMI",
"gene_hgnc_id": 7854,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Asn277His",
"transcript": "XM_047446270.1",
"protein_id": "XP_047302226.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 398,
"cds_start": 829,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446270.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMI",
"gene_hgnc_id": 7854,
"hgvs_c": "c.556A>C",
"hgvs_p": "p.Asn186His",
"transcript": "XM_005246941.3",
"protein_id": "XP_005246998.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 307,
"cds_start": 556,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246941.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NMI",
"gene_hgnc_id": 7854,
"hgvs_c": "c.340+3266A>C",
"hgvs_p": null,
"transcript": "ENST00000883658.1",
"protein_id": "ENSP00000553717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": null,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883658.1"
}
],
"gene_symbol": "NMI",
"gene_hgnc_id": 7854,
"dbsnp": "rs535520274",
"frequency_reference_population": 6.84046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4004725515842438,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.131,
"revel_prediction": "Benign",
"alphamissense_score": 0.0932,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.212,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004688.3",
"gene_symbol": "NMI",
"hgnc_id": 7854,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.556A>C",
"hgvs_p": "p.Asn186His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}