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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: 1-6473262-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6473262&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLEKHG5",
"hgnc_id": 29105,
"hgvs_c": "c.991G>C",
"hgvs_p": "p.Ala331Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001265593.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.0736,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " autosomal recessive 4, distal hereditary motor,Charcot-Marie-Tooth disease recessive intermediate C,Neuronopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.022320091724395752,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "A",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3580,
"cdna_start": 902,
"cds_end": null,
"cds_length": 3021,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_020631.6",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Ala262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377728.8",
"protein_coding": true,
"protein_id": "NP_065682.2",
"strand": false,
"transcript": "NM_020631.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "A",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3580,
"cdna_start": 902,
"cds_end": null,
"cds_length": 3021,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000377728.8",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Ala262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020631.6",
"protein_coding": true,
"protein_id": "ENSP00000366957.3",
"strand": false,
"transcript": "ENST00000377728.8",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 3132,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000377732.5",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Ala299Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366961.1",
"strand": false,
"transcript": "ENST00000377732.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3731,
"cdna_start": 1053,
"cds_end": null,
"cds_length": 3132,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000400915.8",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Ala299Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383706.4",
"strand": false,
"transcript": "ENST00000400915.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "A",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 3021,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000377740.5",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Ala262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366969.4",
"strand": false,
"transcript": "ENST00000377740.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 930,
"aa_ref": "A",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 997,
"cds_end": null,
"cds_length": 2793,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000377725.5",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Ala262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366954.1",
"strand": false,
"transcript": "ENST00000377725.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3759,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 3318,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000673471.2",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.1081G>C",
"hgvs_p": "p.Ala361Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500749.1",
"strand": false,
"transcript": "ENST00000673471.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1075,
"aa_ref": "A",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 3228,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001265593.2",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.991G>C",
"hgvs_p": "p.Ala331Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001252522.1",
"strand": false,
"transcript": "NM_001265593.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1075,
"aa_ref": "A",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 3228,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000535355.6",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.991G>C",
"hgvs_p": "p.Ala331Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441445.1",
"strand": false,
"transcript": "ENST00000535355.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "A",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3689,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 3195,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000377748.6",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.958G>C",
"hgvs_p": "p.Ala320Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366977.2",
"strand": false,
"transcript": "ENST00000377748.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3719,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 3132,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001042663.3",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Ala299Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036128.2",
"strand": false,
"transcript": "NM_001042663.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3899,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 3132,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001265592.2",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Ala299Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001252521.2",
"strand": false,
"transcript": "NM_001265592.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 3132,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000537245.6",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Ala299Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439625.2",
"strand": false,
"transcript": "ENST00000537245.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 3060,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000856967.1",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.823G>C",
"hgvs_p": "p.Ala275Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527026.1",
"strand": false,
"transcript": "ENST00000856967.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "A",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3685,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 3021,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001042664.2",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Ala262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036129.1",
"strand": false,
"transcript": "NM_001042664.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "A",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": 987,
"cds_end": null,
"cds_length": 3021,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001042665.2",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Ala262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036130.1",
"strand": false,
"transcript": "NM_001042665.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "A",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4274,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 3021,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_198681.4",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Ala262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_941374.3",
"strand": false,
"transcript": "NM_198681.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "A",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3699,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 3021,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000340850.10",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Ala262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344570.5",
"strand": false,
"transcript": "ENST00000340850.10",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "A",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3668,
"cdna_start": 990,
"cds_end": null,
"cds_length": 3021,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000400913.6",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Ala262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383704.1",
"strand": false,
"transcript": "ENST00000400913.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "A",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3637,
"cdna_start": 965,
"cds_end": null,
"cds_length": 3021,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675694.1",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Ala262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501925.1",
"strand": false,
"transcript": "ENST00000675694.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "A",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 3021,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
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