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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: 1-1754621-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1754621&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NADK",
"hgnc_id": 29831,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.His401Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001198994.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0665,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24950861930847168,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_023018.5",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341426.9",
"protein_coding": true,
"protein_id": "NP_075394.3",
"strand": false,
"transcript": "NM_023018.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000341426.9",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_023018.5",
"protein_coding": true,
"protein_id": "ENSP00000341679.5",
"strand": false,
"transcript": "ENST00000341426.9",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 591,
"aa_ref": "H",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000378625.5",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.His401Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367890.1",
"strand": false,
"transcript": "ENST00000378625.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000341991.7",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344340.3",
"strand": false,
"transcript": "ENST00000341991.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 591,
"aa_ref": "H",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3615,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001198994.2",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.His401Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185923.1",
"strand": false,
"transcript": "NM_001198994.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 455,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1368,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886141.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556200.1",
"strand": false,
"transcript": "ENST00000886141.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 453,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3255,
"cdna_start": 987,
"cds_end": null,
"cds_length": 1362,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886139.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556198.1",
"strand": false,
"transcript": "ENST00000886139.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 453,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3310,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1362,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000931659.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601718.1",
"strand": false,
"transcript": "ENST00000931659.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3124,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001198993.2",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185922.1",
"strand": false,
"transcript": "NM_001198993.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3180,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353641.2",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340570.1",
"strand": false,
"transcript": "NM_001353641.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886130.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556189.1",
"strand": false,
"transcript": "ENST00000886130.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 446,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886131.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556190.1",
"strand": false,
"transcript": "ENST00000886131.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1183,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886132.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556191.1",
"strand": false,
"transcript": "ENST00000886132.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3543,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886133.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556192.1",
"strand": false,
"transcript": "ENST00000886133.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 1048,
"cds_end": null,
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"cds_start": 766,
"consequences": [
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],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886134.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556193.1",
"strand": false,
"transcript": "ENST00000886134.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3347,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886136.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556195.1",
"strand": false,
"transcript": "ENST00000886136.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
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],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886137.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556196.1",
"strand": false,
"transcript": "ENST00000886137.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"canonical": false,
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"cds_end": null,
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"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886138.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556197.1",
"strand": false,
"transcript": "ENST00000886138.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1041,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886140.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556199.1",
"strand": false,
"transcript": "ENST00000886140.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 446,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3224,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000931657.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601716.1",
"strand": false,
"transcript": "ENST00000931657.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "H",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1341,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000931658.1",
"gene_hgnc_id": 29831,
"gene_symbol": "NADK",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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