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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: 19-34221682-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=34221682&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LSM14A",
"hgnc_id": 24489,
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Arg438Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001384420.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.7493,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6442347168922424,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3431,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_015578.4",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Arg438Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000544216.8",
"protein_coding": true,
"protein_id": "NP_056393.2",
"strand": true,
"transcript": "NM_015578.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3431,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000544216.8",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Arg438Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015578.4",
"protein_coding": true,
"protein_id": "ENSP00000446271.2",
"strand": true,
"transcript": "ENST00000544216.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3424,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000433627.9",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Arg438Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413964.3",
"strand": true,
"transcript": "ENST00000433627.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 468,
"aa_ref": "R",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001384420.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Arg438Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371349.1",
"strand": true,
"transcript": "NM_001384420.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001114093.3",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Arg438Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001107565.1",
"strand": true,
"transcript": "NM_001114093.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 462,
"aa_ref": "R",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3504,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1389,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906057.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576116.1",
"strand": true,
"transcript": "ENST00000906057.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001384421.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Arg436Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371350.1",
"strand": true,
"transcript": "NM_001384421.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000914870.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Arg436Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584929.1",
"strand": true,
"transcript": "ENST00000914870.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 452,
"aa_ref": "R",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1279,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001384422.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371351.1",
"strand": true,
"transcript": "NM_001384422.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 452,
"aa_ref": "R",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1279,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906059.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576118.1",
"strand": true,
"transcript": "ENST00000906059.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 432,
"aa_ref": "R",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1219,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000914871.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1219C>T",
"hgvs_p": "p.Arg407Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584930.1",
"strand": true,
"transcript": "ENST00000914871.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3365,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001384423.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Arg397Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371352.1",
"strand": true,
"transcript": "NM_001384423.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2152,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000540746.6",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Arg397Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446451.1",
"strand": true,
"transcript": "ENST00000540746.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3364,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906060.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Arg397Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576119.1",
"strand": true,
"transcript": "ENST00000906060.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 409,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001384424.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371353.1",
"strand": true,
"transcript": "NM_001384424.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 404,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1215,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001384425.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371354.1",
"strand": true,
"transcript": "NM_001384425.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 404,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1215,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001384426.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371355.1",
"strand": true,
"transcript": "NM_001384426.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 403,
"aa_ref": "R",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3242,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906061.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Arg378Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576120.1",
"strand": true,
"transcript": "ENST00000906061.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 402,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001384427.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Arg377Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371356.1",
"strand": true,
"transcript": "NM_001384427.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 402,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3305,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001384428.1",
"gene_hgnc_id": 24489,
"gene_symbol": "LSM14A",
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Arg377Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371357.1",
"strand": true,
"transcript": "NM_001384428.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 402,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906056.1",
"gene_hgnc_id": 24489,
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