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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: 12-56581482-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56581482&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RBMS2",
"hgnc_id": 9909,
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001414460.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 32,
"alphamissense_prediction": null,
"alphamissense_score": 0.1808,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.78838711977005,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 407,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8488,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1224,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_002898.4",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262031.10",
"protein_coding": true,
"protein_id": "NP_002889.1",
"strand": true,
"transcript": "NM_002898.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 407,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8488,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1224,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000262031.10",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002898.4",
"protein_coding": true,
"protein_id": "ENSP00000262031.5",
"strand": true,
"transcript": "ENST00000262031.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000552916.5",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "n.*312C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450127.1",
"strand": true,
"transcript": "ENST00000552916.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000552916.5",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "n.*312C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450127.1",
"strand": true,
"transcript": "ENST00000552916.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 429,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8263,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1290,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001414460.1",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401389.1",
"strand": true,
"transcript": "NM_001414460.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 407,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8350,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1224,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001414461.1",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401390.1",
"strand": true,
"transcript": "NM_001414461.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 407,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3952,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1224,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000855893.1",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525952.1",
"strand": true,
"transcript": "ENST00000855893.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 407,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4076,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1224,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000855894.1",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525953.1",
"strand": true,
"transcript": "ENST00000855894.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 407,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3848,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1224,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000855895.1",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525954.1",
"strand": true,
"transcript": "ENST00000855895.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 407,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1224,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000855897.1",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525956.1",
"strand": true,
"transcript": "ENST00000855897.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 388,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8401,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1167,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001414459.1",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401388.1",
"strand": true,
"transcript": "NM_001414459.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 344,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": 772,
"cds_end": null,
"cds_length": 1035,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000552247.6",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447426.1",
"strand": true,
"transcript": "ENST00000552247.6",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 282,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1452,
"cdna_start": 564,
"cds_end": null,
"cds_length": 849,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000550726.5",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Arg111Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449678.1",
"strand": true,
"transcript": "ENST00000550726.5",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 262,
"aa_ref": "R",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 504,
"cds_end": null,
"cds_length": 789,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000542360.1",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Arg91Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443486.1",
"strand": true,
"transcript": "ENST00000542360.1",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7752,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1434,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006719541.5",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719604.1",
"strand": true,
"transcript": "XM_006719541.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 458,
"aa_ref": "R",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7891,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1377,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047429297.1",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285253.1",
"strand": true,
"transcript": "XM_047429297.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8483,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1347,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005269059.6",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005269116.1",
"strand": true,
"transcript": "XM_005269059.6",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7665,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1347,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006719542.5",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719605.1",
"strand": true,
"transcript": "XM_006719542.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 447,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7778,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1344,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_024449115.2",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304883.1",
"strand": true,
"transcript": "XM_024449115.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 447,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7578,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1344,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_024449116.2",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304884.1",
"strand": true,
"transcript": "XM_024449116.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 430,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7526,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1293,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047429298.1",
"gene_hgnc_id": 9909,
"gene_symbol": "RBMS2",
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Arg189Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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