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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: 10-70547345-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=70547345&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PALD1",
"hgnc_id": 23530,
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_014431.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 247925,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0818,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0005375146865844727,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": 2483,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_014431.3",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263563.7",
"protein_coding": true,
"protein_id": "NP_055246.2",
"strand": true,
"transcript": "NM_014431.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": 2483,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000263563.7",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014431.3",
"protein_coding": true,
"protein_id": "ENSP00000263563.5",
"strand": true,
"transcript": "ENST00000263563.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 865,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4127,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 2598,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000697571.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513342.1",
"strand": true,
"transcript": "ENST00000697571.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4658,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000893833.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563892.1",
"strand": true,
"transcript": "ENST00000893833.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4717,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000893834.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563893.1",
"strand": true,
"transcript": "ENST00000893834.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4512,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000893836.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563895.1",
"strand": true,
"transcript": "ENST00000893836.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4609,
"cdna_start": 2477,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000915437.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585496.1",
"strand": true,
"transcript": "ENST00000915437.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 2335,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000915438.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585497.1",
"strand": true,
"transcript": "ENST00000915438.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4741,
"cdna_start": 2609,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000915446.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585505.1",
"strand": true,
"transcript": "ENST00000915446.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4962,
"cdna_start": 2837,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000945160.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615219.1",
"strand": true,
"transcript": "ENST00000945160.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": 2308,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000945162.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615221.1",
"strand": true,
"transcript": "ENST00000945162.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 855,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4612,
"cdna_start": 2480,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000915441.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585500.1",
"strand": true,
"transcript": "ENST00000915441.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 851,
"aa_ref": "R",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4618,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000915440.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2146C>T",
"hgvs_p": "p.Arg716Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585499.1",
"strand": true,
"transcript": "ENST00000915440.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 844,
"aa_ref": "R",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4695,
"cdna_start": 2563,
"cds_end": null,
"cds_length": 2535,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000915443.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2125C>T",
"hgvs_p": "p.Arg709Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585502.1",
"strand": true,
"transcript": "ENST00000915443.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 832,
"aa_ref": "R",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4535,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2499,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000893832.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2089C>T",
"hgvs_p": "p.Arg697Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563891.1",
"strand": true,
"transcript": "ENST00000893832.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 824,
"aa_ref": "R",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": 2335,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2065,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000893835.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2065C>T",
"hgvs_p": "p.Arg689Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563894.1",
"strand": true,
"transcript": "ENST00000893835.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 817,
"aa_ref": "R",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4472,
"cdna_start": 2347,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2044,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000945161.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2044C>T",
"hgvs_p": "p.Arg682Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615220.1",
"strand": true,
"transcript": "ENST00000945161.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 813,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 2442,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000697573.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513344.1",
"strand": true,
"transcript": "ENST00000697573.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 813,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4515,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 2442,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000915439.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2032C>T",
"hgvs_p": "p.Arg678Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585498.1",
"strand": true,
"transcript": "ENST00000915439.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 804,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4421,
"cdna_start": 2445,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000915445.1",
"gene_hgnc_id": 23530,
"gene_symbol": "PALD1",
"hgvs_c": "c.2161C>T",
"hgvs_p": "p.Arg721Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585504.1",
"strand": true,
"transcript": "ENST00000915445.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 795,
"aa_ref": "R",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4335,
"cdna_start": 2282,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1978,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
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