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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: 1-6467950-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6467950&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PLEKHG5",
"hgnc_id": 29105,
"hgvs_c": "c.3093G>A",
"hgvs_p": "p.Ser1031Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001265593.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -13,
"allele_count_reference_population": 112,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": " autosomal recessive 4, distal hereditary motor,Charcot-Marie-Tooth disease recessive intermediate C,Inborn genetic diseases,Neuronopathy",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3580,
"cdna_start": 3004,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2886,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_020631.6",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2886G>A",
"hgvs_p": "p.Ser962Ser",
"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": "S",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3580,
"cdna_start": 3004,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2886,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000377728.8",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2886G>A",
"hgvs_p": "p.Ser962Ser",
"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": "S",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "S",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": 3177,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2997,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000377732.5",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2997G>A",
"hgvs_p": "p.Ser999Ser",
"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": "S",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "S",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3731,
"cdna_start": 3155,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2997,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000400915.8",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2997G>A",
"hgvs_p": "p.Ser999Ser",
"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": "S",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 3615,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2886,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000377740.5",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2886G>A",
"hgvs_p": "p.Ser962Ser",
"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": null,
"aa_end": null,
"aa_length": 930,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": null,
"cds_end": null,
"cds_length": 2793,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377725.5",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2738-52G>A",
"hgvs_p": null,
"intron_rank": 20,
"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": "S",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "S",
"aa_start": 1061,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3759,
"cdna_start": 3183,
"cds_end": null,
"cds_length": 3318,
"cds_start": 3183,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000673471.2",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.3183G>A",
"hgvs_p": "p.Ser1061Ser",
"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": "S",
"aa_end": null,
"aa_length": 1075,
"aa_ref": "S",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": 3117,
"cds_end": null,
"cds_length": 3228,
"cds_start": 3093,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001265593.2",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.3093G>A",
"hgvs_p": "p.Ser1031Ser",
"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": "S",
"aa_end": null,
"aa_length": 1075,
"aa_ref": "S",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 3119,
"cds_end": null,
"cds_length": 3228,
"cds_start": 3093,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000535355.6",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.3093G>A",
"hgvs_p": "p.Ser1031Ser",
"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": "S",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "S",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3689,
"cdna_start": 3113,
"cds_end": null,
"cds_length": 3195,
"cds_start": 3060,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000377748.6",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.3060G>A",
"hgvs_p": "p.Ser1020Ser",
"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": "S",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "S",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3719,
"cdna_start": 3143,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2997,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001042663.3",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2997G>A",
"hgvs_p": "p.Ser999Ser",
"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": "S",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "S",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3899,
"cdna_start": 3323,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2997,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001265592.2",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2997G>A",
"hgvs_p": "p.Ser999Ser",
"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": "S",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "S",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 3188,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2997,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000537245.6",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2997G>A",
"hgvs_p": "p.Ser999Ser",
"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": "S",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "S",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 3156,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2925,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000856967.1",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2925G>A",
"hgvs_p": "p.Ser975Ser",
"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": "S",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3685,
"cdna_start": 3109,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2886,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001042664.2",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2886G>A",
"hgvs_p": "p.Ser962Ser",
"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": "S",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": 3089,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2886,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001042665.2",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2886G>A",
"hgvs_p": "p.Ser962Ser",
"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": "S",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4274,
"cdna_start": 3698,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2886,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_198681.4",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2886G>A",
"hgvs_p": "p.Ser962Ser",
"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": "S",
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"aa_length": 1006,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3699,
"cdna_start": 3123,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2886,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000340850.10",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2886G>A",
"hgvs_p": "p.Ser962Ser",
"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": "S",
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"aa_length": 1006,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3668,
"cdna_start": 3092,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2886,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000400913.6",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2886G>A",
"hgvs_p": "p.Ser962Ser",
"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": "S",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3637,
"cdna_start": 3067,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2886,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000675694.1",
"gene_hgnc_id": 29105,
"gene_symbol": "PLEKHG5",
"hgvs_c": "c.2886G>A",
"hgvs_p": "p.Ser962Ser",
"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": "S",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 3273,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2886,
"consequences": [
"synonymous_variant"
],
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