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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: 1-1756298-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1756298&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1756298,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_023018.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.545G>T",
"hgvs_p": "p.Gly182Val",
"transcript": "NM_023018.5",
"protein_id": "NP_075394.3",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 446,
"cds_start": 545,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": "ENST00000341426.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.545G>T",
"hgvs_p": "p.Gly182Val",
"transcript": "ENST00000341426.9",
"protein_id": "ENSP00000341679.5",
"transcript_support_level": 2,
"aa_start": 182,
"aa_end": null,
"aa_length": 446,
"cds_start": 545,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": "NM_023018.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.980G>T",
"hgvs_p": "p.Gly327Val",
"transcript": "ENST00000378625.5",
"protein_id": "ENSP00000367890.1",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 591,
"cds_start": 980,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.545G>T",
"hgvs_p": "p.Gly182Val",
"transcript": "ENST00000341991.7",
"protein_id": "ENSP00000344340.3",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 446,
"cds_start": 545,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.980G>T",
"hgvs_p": "p.Gly327Val",
"transcript": "NM_001198994.2",
"protein_id": "NP_001185923.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 591,
"cds_start": 980,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.545G>T",
"hgvs_p": "p.Gly182Val",
"transcript": "NM_001198993.2",
"protein_id": "NP_001185922.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 446,
"cds_start": 545,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.545G>T",
"hgvs_p": "p.Gly182Val",
"transcript": "NM_001353641.2",
"protein_id": "NP_001340570.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 446,
"cds_start": 545,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.449G>T",
"hgvs_p": "p.Gly150Val",
"transcript": "NM_001198995.1",
"protein_id": "NP_001185924.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 414,
"cds_start": 449,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.449G>T",
"hgvs_p": "p.Gly150Val",
"transcript": "ENST00000342348.9",
"protein_id": "ENSP00000339727.5",
"transcript_support_level": 2,
"aa_start": 150,
"aa_end": null,
"aa_length": 414,
"cds_start": 449,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 1722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.284G>T",
"hgvs_p": "p.Gly95Val",
"transcript": "NM_001353642.2",
"protein_id": "NP_001340571.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 359,
"cds_start": 284,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.857G>T",
"hgvs_p": "p.Gly286Val",
"transcript": "XM_047428656.1",
"protein_id": "XP_047284612.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 550,
"cds_start": 857,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.545G>T",
"hgvs_p": "p.Gly182Val",
"transcript": "XM_047428631.1",
"protein_id": "XP_047284587.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 446,
"cds_start": 545,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Gly79Val",
"transcript": "XM_011542009.3",
"protein_id": "XP_011540311.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 343,
"cds_start": 236,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Gly70Val",
"transcript": "XM_017002144.3",
"protein_id": "XP_016857633.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 334,
"cds_start": 209,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Gly49Val",
"transcript": "XM_047428647.1",
"protein_id": "XP_047284603.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 313,
"cds_start": 146,
"cds_end": null,
"cds_length": 942,
"cdna_start": 256,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "n.568G>T",
"hgvs_p": null,
"transcript": "ENST00000477235.5",
"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": 1004,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "n.30G>T",
"hgvs_p": null,
"transcript": "ENST00000480499.5",
"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": 549,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "n.152G>T",
"hgvs_p": null,
"transcript": "ENST00000489538.1",
"protein_id": "ENSP00000462999.1",
"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": 475,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "n.643G>T",
"hgvs_p": null,
"transcript": "ENST00000492845.6",
"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": 937,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "n.*251G>T",
"hgvs_p": null,
"transcript": "ENST00000497186.5",
"protein_id": "ENSP00000464096.1",
"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": 683,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "n.767G>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": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.*211G>T",
"hgvs_p": null,
"transcript": "ENST00000469045.5",
"protein_id": "ENSP00000462589.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": -4,
"cds_end": null,
"cds_length": 132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 890,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "n.*251G>T",
"hgvs_p": null,
"transcript": "ENST00000497186.5",
"protein_id": "ENSP00000464096.1",
"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": 683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"dbsnp": "rs751182182",
"frequency_reference_population": 6.8406564e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84066e-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": 0.9933315515518188,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.969,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9976,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.241,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_023018.5",
"gene_symbol": "NADK",
"hgnc_id": 29831,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.545G>T",
"hgvs_p": "p.Gly182Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}