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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: 1-1753014-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1753014&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1753014,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_023018.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Arg411Trp",
"transcript": "NM_023018.5",
"protein_id": "NP_075394.3",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 446,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": "ENST00000341426.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Arg411Trp",
"transcript": "ENST00000341426.9",
"protein_id": "ENSP00000341679.5",
"transcript_support_level": 2,
"aa_start": 411,
"aa_end": null,
"aa_length": 446,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": "NM_023018.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1666C>T",
"hgvs_p": "p.Arg556Trp",
"transcript": "ENST00000378625.5",
"protein_id": "ENSP00000367890.1",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 591,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Arg411Trp",
"transcript": "ENST00000341991.7",
"protein_id": "ENSP00000344340.3",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 446,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1666C>T",
"hgvs_p": "p.Arg556Trp",
"transcript": "NM_001198994.2",
"protein_id": "NP_001185923.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 591,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Arg411Trp",
"transcript": "NM_001198993.2",
"protein_id": "NP_001185922.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 446,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Arg411Trp",
"transcript": "NM_001353641.2",
"protein_id": "NP_001340570.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 446,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "NM_001198995.1",
"protein_id": "NP_001185924.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 414,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Trp",
"transcript": "ENST00000342348.9",
"protein_id": "ENSP00000339727.5",
"transcript_support_level": 2,
"aa_start": 379,
"aa_end": null,
"aa_length": 414,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 1722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Trp",
"transcript": "NM_001353642.2",
"protein_id": "NP_001340571.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 359,
"cds_start": 970,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1543C>T",
"hgvs_p": "p.Arg515Trp",
"transcript": "XM_047428656.1",
"protein_id": "XP_047284612.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 550,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Arg411Trp",
"transcript": "XM_047428631.1",
"protein_id": "XP_047284587.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 446,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Arg308Trp",
"transcript": "XM_011542009.3",
"protein_id": "XP_011540311.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 343,
"cds_start": 922,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Trp",
"transcript": "XM_017002144.3",
"protein_id": "XP_016857633.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 334,
"cds_start": 895,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Trp",
"transcript": "XM_047428647.1",
"protein_id": "XP_047284603.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 313,
"cds_start": 832,
"cds_end": null,
"cds_length": 942,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "n.*113C>T",
"hgvs_p": null,
"transcript": "ENST00000498806.1",
"protein_id": "ENSP00000464137.1",
"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": 269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "n.1295C>T",
"hgvs_p": null,
"transcript": "XR_946747.3",
"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": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "n.*113C>T",
"hgvs_p": null,
"transcript": "ENST00000498806.1",
"protein_id": "ENSP00000464137.1",
"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": 269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"dbsnp": "rs751071301",
"frequency_reference_population": 0.000031068597,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000260798,
"gnomad_genomes_af": 0.0000788032,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2646813690662384,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.213,
"revel_prediction": "Benign",
"alphamissense_score": 0.1367,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.957,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_023018.5",
"gene_symbol": "NADK",
"hgnc_id": 29831,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Arg411Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}