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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: 4-145765160-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=145765160&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF827",
"hgnc_id": 27193,
"hgvs_c": "c.3058G>A",
"hgvs_p": "p.Glu1020Lys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001410850.1",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "C4orf51",
"hgnc_id": 37264,
"hgvs_c": "n.167-5828C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000510096.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": 0.917,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.05,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.49606820940971375,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1081,
"aa_ref": "E",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7651,
"cdna_start": 3474,
"cds_end": null,
"cds_length": 3246,
"cds_start": 3058,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001306215.2",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.3058G>A",
"hgvs_p": "p.Glu1020Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000508784.6",
"protein_coding": true,
"protein_id": "NP_001293144.1",
"strand": false,
"transcript": "NM_001306215.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1081,
"aa_ref": "E",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7651,
"cdna_start": 3474,
"cds_end": null,
"cds_length": 3246,
"cds_start": 3058,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000508784.6",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.3058G>A",
"hgvs_p": "p.Glu1020Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001306215.2",
"protein_coding": true,
"protein_id": "ENSP00000421863.1",
"strand": false,
"transcript": "ENST00000508784.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 731,
"aa_ref": "E",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 2090,
"cds_end": null,
"cds_length": 2196,
"cds_start": 2008,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000513320.5",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.2008G>A",
"hgvs_p": "p.Glu670Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423130.1",
"strand": false,
"transcript": "ENST00000513320.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1349,
"aa_ref": "E",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7618,
"cdna_start": 3474,
"cds_end": null,
"cds_length": 4050,
"cds_start": 3058,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001410850.1",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.3058G>A",
"hgvs_p": "p.Glu1020Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397779.1",
"strand": false,
"transcript": "NM_001410850.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1349,
"aa_ref": "E",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7187,
"cdna_start": 3081,
"cds_end": null,
"cds_length": 4050,
"cds_start": 3058,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000503462.3",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.3058G>A",
"hgvs_p": "p.Glu1020Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424541.2",
"strand": false,
"transcript": "ENST00000503462.3",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "E",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4097,
"cdna_start": 3073,
"cds_end": null,
"cds_length": 3258,
"cds_start": 3058,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000652097.1",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.3058G>A",
"hgvs_p": "p.Glu1020Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498532.1",
"strand": false,
"transcript": "ENST00000652097.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "E",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7660,
"cdna_start": 3474,
"cds_end": null,
"cds_length": 3234,
"cds_start": 3058,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_178835.5",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.3058G>A",
"hgvs_p": "p.Glu1020Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_849157.2",
"strand": false,
"transcript": "NM_178835.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "E",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4156,
"cdna_start": 3081,
"cds_end": null,
"cds_length": 3234,
"cds_start": 3058,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000379448.9",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.3058G>A",
"hgvs_p": "p.Glu1020Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368761.4",
"strand": false,
"transcript": "ENST00000379448.9",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "E",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4094,
"cdna_start": 3073,
"cds_end": null,
"cds_length": 3234,
"cds_start": 3058,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000656985.1",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.3058G>A",
"hgvs_p": "p.Glu1020Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499364.1",
"strand": false,
"transcript": "ENST00000656985.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "E",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4335,
"cdna_start": 3252,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2839,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000884879.1",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.2839G>A",
"hgvs_p": "p.Glu947Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554938.1",
"strand": false,
"transcript": "ENST00000884879.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "E",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4320,
"cdna_start": 3237,
"cds_end": null,
"cds_length": 3012,
"cds_start": 2824,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000884878.1",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.2824G>A",
"hgvs_p": "p.Glu942Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554937.1",
"strand": false,
"transcript": "ENST00000884878.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 908,
"aa_ref": "E",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6742,
"cdna_start": 2531,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2530,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000655597.2",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.2530G>A",
"hgvs_p": "p.Glu844Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499383.2",
"strand": false,
"transcript": "ENST00000655597.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 716,
"aa_ref": "E",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1975,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000511659.2",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.1975G>A",
"hgvs_p": "p.Glu659Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424456.2",
"strand": false,
"transcript": "ENST00000511659.2",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "E",
"aa_start": 1018,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7612,
"cdna_start": 3468,
"cds_end": null,
"cds_length": 4044,
"cds_start": 3052,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017007768.3",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.3052G>A",
"hgvs_p": "p.Glu1018Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863257.1",
"strand": false,
"transcript": "XM_017007768.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "E",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16392,
"cdna_start": 12248,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3022,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011531635.3",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.3022G>A",
"hgvs_p": "p.Glu1008Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529937.1",
"strand": false,
"transcript": "XM_011531635.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 1337,
"aa_ref": "E",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17151,
"cdna_start": 13007,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3022,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017007769.2",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.3022G>A",
"hgvs_p": "p.Glu1008Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863258.1",
"strand": false,
"transcript": "XM_017007769.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 1337,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7582,
"cdna_start": 3438,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3022,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047449634.1",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.3022G>A",
"hgvs_p": "p.Glu1008Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305590.1",
"strand": false,
"transcript": "XM_047449634.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "E",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7384,
"cdna_start": 3240,
"cds_end": null,
"cds_length": 3816,
"cds_start": 2824,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017007770.3",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.2824G>A",
"hgvs_p": "p.Glu942Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863259.1",
"strand": false,
"transcript": "XM_017007770.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "E",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7378,
"cdna_start": 3234,
"cds_end": null,
"cds_length": 3810,
"cds_start": 2818,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047449635.1",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.2818G>A",
"hgvs_p": "p.Glu940Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305591.1",
"strand": false,
"transcript": "XM_047449635.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "E",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8438,
"cdna_start": 4294,
"cds_end": null,
"cds_length": 3348,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047449636.1",
"gene_hgnc_id": 27193,
"gene_symbol": "ZNF827",
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Glu786Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305592.1",
"strand": false,
"transcript": "XM_047449636.1",
"transcript_support_level": null
},
{
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