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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: 4-166792260-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=166792260&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPOCK3",
"hgnc_id": 13565,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Ala210Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_016950.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 49,
"alphamissense_prediction": null,
"alphamissense_score": 0.1793,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"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": "Benign",
"computational_score_selected": 0.24207013845443726,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 433,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2884,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1302,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001040159.2",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Ala207Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357545.9",
"protein_coding": true,
"protein_id": "NP_001035249.1",
"strand": false,
"transcript": "NM_001040159.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 433,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2884,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1302,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000357545.9",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Ala207Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001040159.2",
"protein_coding": true,
"protein_id": "ENSP00000350153.4",
"strand": false,
"transcript": "ENST00000357545.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 436,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1311,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000502330.5",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Ala210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423606.1",
"strand": false,
"transcript": "ENST00000502330.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 313,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1456,
"cdna_start": 722,
"cds_end": null,
"cds_length": 942,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000512648.5",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Ala207Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426177.1",
"strand": false,
"transcript": "ENST00000512648.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 436,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 673,
"cds_end": null,
"cds_length": 1311,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_016950.3",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Ala210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_058646.2",
"strand": false,
"transcript": "NM_016950.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 436,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1311,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000357154.7",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Ala210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349677.3",
"strand": false,
"transcript": "ENST00000357154.7",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 436,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1311,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000506886.5",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Ala210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420920.1",
"strand": false,
"transcript": "ENST00000506886.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 436,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1311,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000511531.5",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Ala210Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423421.1",
"strand": false,
"transcript": "ENST00000511531.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 433,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1302,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001430594.1",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Ala207Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001417523.1",
"strand": false,
"transcript": "NM_001430594.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 433,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1302,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000504953.5",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Ala207Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425570.1",
"strand": false,
"transcript": "ENST00000504953.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 433,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1302,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000511269.5",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Ala207Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425502.1",
"strand": false,
"transcript": "ENST00000511269.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 431,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2988,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1296,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874039.1",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Ala207Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544098.1",
"strand": false,
"transcript": "ENST00000874039.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 412,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1239,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874040.1",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Ala207Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544099.1",
"strand": false,
"transcript": "ENST00000874040.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 410,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1233,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874042.1",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Ala207Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544101.1",
"strand": false,
"transcript": "ENST00000874042.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 387,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 674,
"cds_end": null,
"cds_length": 1164,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000943358.1",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Ala207Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613417.1",
"strand": false,
"transcript": "ENST00000943358.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 385,
"aa_ref": "A",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1158,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001204352.2",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Ala159Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191281.1",
"strand": false,
"transcript": "NM_001204352.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 385,
"aa_ref": "A",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": 841,
"cds_end": null,
"cds_length": 1158,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000421836.6",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Ala159Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411344.2",
"strand": false,
"transcript": "ENST00000421836.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 359,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1080,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874041.1",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Ala207Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544100.1",
"strand": false,
"transcript": "ENST00000874041.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 344,
"aa_ref": "A",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1035,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001204354.2",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Ala118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191283.1",
"strand": false,
"transcript": "NM_001204354.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 344,
"aa_ref": "A",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": 550,
"cds_end": null,
"cds_length": 1035,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000535728.5",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Ala118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441396.2",
"strand": false,
"transcript": "ENST00000535728.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1023,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001204355.2",
"gene_hgnc_id": 13565,
"gene_symbol": "SPOCK3",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Ala114Thr",
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