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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: 5-36195166-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=36195166&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NADK2",
"hgnc_id": 26404,
"hgvs_c": "c.1307G>C",
"hgvs_p": "p.Arg436Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001085411.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "SKP2",
"hgnc_id": 10901,
"hgvs_c": "c.*110C>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000678270.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9337,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.4095953404903412,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 442,
"aa_ref": "R",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001085411.3",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.1307G>C",
"hgvs_p": "p.Arg436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381937.9",
"protein_coding": true,
"protein_id": "NP_001078880.1",
"strand": false,
"transcript": "NM_001085411.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 442,
"aa_ref": "R",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000381937.9",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.1307G>C",
"hgvs_p": "p.Arg436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001085411.3",
"protein_coding": true,
"protein_id": "ENSP00000371362.4",
"strand": false,
"transcript": "ENST00000381937.9",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 840,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000282512.7",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.818G>C",
"hgvs_p": "p.Arg273Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000282512.3",
"strand": false,
"transcript": "ENST00000282512.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 247,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 744,
"cdna_start": 722,
"cds_end": null,
"cds_length": 744,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000617628.4",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.722G>C",
"hgvs_p": "p.Arg241Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480506.1",
"strand": false,
"transcript": "ENST00000617628.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3317,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000404560.7",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "n.1036G>C",
"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": "ENST00000404560.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1035,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000511613.5",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "n.691G>C",
"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": "ENST00000511613.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1412,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000948923.1",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.1412G>C",
"hgvs_p": "p.Arg471Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618982.1",
"strand": false,
"transcript": "ENST00000948923.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 455,
"aa_ref": "R",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1796,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1346,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000948924.1",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.1346G>C",
"hgvs_p": "p.Arg449Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618983.1",
"strand": false,
"transcript": "ENST00000948924.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1233,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000514504.5",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.1211G>C",
"hgvs_p": "p.Arg404Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421029.1",
"strand": false,
"transcript": "ENST00000514504.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 301,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 906,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001287341.2",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.884G>C",
"hgvs_p": "p.Arg295Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274270.1",
"strand": false,
"transcript": "NM_001287341.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 301,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 906,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000506945.5",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.884G>C",
"hgvs_p": "p.Arg295Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422250.1",
"strand": false,
"transcript": "ENST00000506945.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3617,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 840,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001287340.2",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.818G>C",
"hgvs_p": "p.Arg273Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274269.1",
"strand": false,
"transcript": "NM_001287340.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 840,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_153013.5",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.818G>C",
"hgvs_p": "p.Arg273Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_694558.1",
"strand": false,
"transcript": "NM_153013.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3614,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 840,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000397338.5",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.818G>C",
"hgvs_p": "p.Arg273Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380499.1",
"strand": false,
"transcript": "ENST00000397338.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 136,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": 391,
"cds_end": null,
"cds_length": 411,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000502355.5",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.389G>C",
"hgvs_p": "p.Arg130Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424166.1",
"strand": false,
"transcript": "ENST00000502355.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4077,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_005248241.5",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.1373G>C",
"hgvs_p": "p.Arg458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248298.1",
"strand": false,
"transcript": "XM_005248241.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 301,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 906,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_024454360.2",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.884G>C",
"hgvs_p": "p.Arg295Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024310128.1",
"strand": false,
"transcript": "XM_024454360.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 301,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3670,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 906,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047416705.1",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.884G>C",
"hgvs_p": "p.Arg295Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272661.1",
"strand": false,
"transcript": "XM_047416705.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 840,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047416706.1",
"gene_hgnc_id": 26404,
"gene_symbol": "NADK2",
"hgvs_c": "c.818G>C",
"hgvs_p": "p.Arg273Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272662.1",
"strand": false,
"transcript": "XM_047416706.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 374,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": null,
"cds_end": null,
"cds_length": 1125,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000678270.1",
"gene_hgnc_id": 10901,
"gene_symbol": "SKP2",
"hgvs_c": "c.*110C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502955.1",
"strand": true,
"transcript": "ENST00000678270.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": null,
"cds_end": null,
"cds_length": 771,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
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