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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: 1-115286234-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=115286234&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 115286234,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000369512.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGF",
"gene_hgnc_id": 7808,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "NM_002506.3",
"protein_id": "NP_002497.2",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 241,
"cds_start": 562,
"cds_end": null,
"cds_length": 726,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 1061,
"mane_select": "ENST00000369512.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGF",
"gene_hgnc_id": 7808,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000369512.3",
"protein_id": "ENSP00000358525.2",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 241,
"cds_start": 562,
"cds_end": null,
"cds_length": 726,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 1061,
"mane_select": "NM_002506.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGF",
"gene_hgnc_id": 7808,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "NM_001437545.1",
"protein_id": "NP_001424474.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 241,
"cds_start": 562,
"cds_end": null,
"cds_length": 726,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGF",
"gene_hgnc_id": 7808,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000675637.2",
"protein_id": "ENSP00000502831.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 241,
"cds_start": 562,
"cds_end": null,
"cds_length": 726,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGF",
"gene_hgnc_id": 7808,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000676038.2",
"protein_id": "ENSP00000502380.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 241,
"cds_start": 562,
"cds_end": null,
"cds_length": 726,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGF",
"gene_hgnc_id": 7808,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000679806.1",
"protein_id": "ENSP00000506492.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 241,
"cds_start": 562,
"cds_end": null,
"cds_length": 726,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGF",
"gene_hgnc_id": 7808,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000680116.1",
"protein_id": "ENSP00000505694.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 241,
"cds_start": 562,
"cds_end": null,
"cds_length": 726,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGF",
"gene_hgnc_id": 7808,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000680540.1",
"protein_id": "ENSP00000506569.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 241,
"cds_start": 562,
"cds_end": null,
"cds_length": 726,
"cdna_start": 2788,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGF",
"gene_hgnc_id": 7808,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000680752.1",
"protein_id": "ENSP00000505558.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 241,
"cds_start": 562,
"cds_end": null,
"cds_length": 726,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGF",
"gene_hgnc_id": 7808,
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Gly31Arg",
"transcript": "ENST00000681124.1",
"protein_id": "ENSP00000506364.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 84,
"cds_start": 91,
"cds_end": null,
"cds_length": 255,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGF",
"gene_hgnc_id": 7808,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Gly243Arg",
"transcript": "XM_011541518.3",
"protein_id": "XP_011539820.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 296,
"cds_start": 727,
"cds_end": null,
"cds_length": 891,
"cdna_start": 3760,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NGF-AS1",
"gene_hgnc_id": 53922,
"hgvs_c": "n.207+2994C>T",
"hgvs_p": null,
"transcript": "ENST00000425449.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NGF-AS1",
"gene_hgnc_id": 53922,
"hgvs_c": "n.500+4537C>T",
"hgvs_p": null,
"transcript": "ENST00000793538.1",
"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": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NGF-AS1",
"gene_hgnc_id": 53922,
"hgvs_c": "n.252+4537C>T",
"hgvs_p": null,
"transcript": "ENST00000793539.1",
"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": 674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NGF-AS1",
"gene_hgnc_id": 53922,
"hgvs_c": "n.219+4537C>T",
"hgvs_p": null,
"transcript": "ENST00000793540.1",
"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": 379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NGF-AS1",
"gene_hgnc_id": 53922,
"hgvs_c": "n.188+2994C>T",
"hgvs_p": null,
"transcript": "ENST00000793541.1",
"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": 348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NGF-AS1",
"gene_hgnc_id": 53922,
"hgvs_c": "n.322+4537C>T",
"hgvs_p": null,
"transcript": "ENST00000793542.1",
"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": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NGF-AS1",
"gene_hgnc_id": 53922,
"hgvs_c": "n.149+2994C>T",
"hgvs_p": null,
"transcript": "ENST00000793544.1",
"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": 498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NGF-AS1",
"gene_hgnc_id": 53922,
"hgvs_c": "n.207+2994C>T",
"hgvs_p": null,
"transcript": "NR_157569.1",
"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": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NGF",
"gene_hgnc_id": 7808,
"dbsnp": "rs760753923",
"frequency_reference_population": 0.00004213083,
"hom_count_reference_population": 0,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.0000417268,
"gnomad_genomes_af": 0.0000460133,
"gnomad_exomes_ac": 61,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9191093444824219,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.54,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6736,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.063,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000369512.3",
"gene_symbol": "NGF",
"hgnc_id": 7808,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000425449.1",
"gene_symbol": "NGF-AS1",
"hgnc_id": 53922,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.207+2994C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital sensory neuropathy with selective loss of small myelinated fibers,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "not provided|Congenital sensory neuropathy with selective loss of small myelinated fibers|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}