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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: 11-4083300-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=4083300&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 4083300,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000526596.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Cys",
"transcript": "NM_001382567.1",
"protein_id": "NP_001369496.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 716,
"cds_start": 1276,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": "ENST00000526596.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Cys",
"transcript": "ENST00000526596.2",
"protein_id": "ENSP00000433266.2",
"transcript_support_level": 5,
"aa_start": 426,
"aa_end": null,
"aa_length": 716,
"cds_start": 1276,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": "NM_001382567.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Cys",
"transcript": "ENST00000616714.4",
"protein_id": "ENSP00000478059.1",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 791,
"cds_start": 1276,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Cys",
"transcript": "ENST00000300737.8",
"protein_id": "ENSP00000300737.4",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 685,
"cds_start": 1276,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Cys",
"transcript": "ENST00000527651.5",
"protein_id": "ENSP00000436208.1",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 540,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Cys",
"transcript": "ENST00000533977.5",
"protein_id": "ENSP00000434767.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 512,
"cds_start": 757,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Cys",
"transcript": "NM_001277961.3",
"protein_id": "NP_001264890.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 791,
"cds_start": 1276,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Cys",
"transcript": "NM_001382566.1",
"protein_id": "NP_001369495.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 717,
"cds_start": 1054,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Cys",
"transcript": "ENST00000698911.1",
"protein_id": "ENSP00000514025.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 717,
"cds_start": 1054,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Cys",
"transcript": "ENST00000698915.1",
"protein_id": "ENSP00000514029.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 713,
"cds_start": 1276,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "NM_001382568.1",
"protein_id": "NP_001369497.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 692,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "ENST00000698916.1",
"protein_id": "ENSP00000514030.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 692,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Cys",
"transcript": "NM_003156.4",
"protein_id": "NP_003147.2",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 685,
"cds_start": 1276,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "NM_001382569.1",
"protein_id": "NP_001369498.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 640,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Cys",
"transcript": "NM_001382575.1",
"protein_id": "NP_001369504.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 611,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Cys",
"transcript": "NM_001382576.1",
"protein_id": "NP_001369505.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 611,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Cys",
"transcript": "NM_001382577.1",
"protein_id": "NP_001369506.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 611,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Cys",
"transcript": "ENST00000698913.1",
"protein_id": "ENSP00000514027.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 611,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Arg350Cys",
"transcript": "NM_001382570.1",
"protein_id": "NP_001369499.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 609,
"cds_start": 1048,
"cds_end": null,
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"cdna_start": 1655,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Cys",
"transcript": "NM_001277962.2",
"protein_id": "NP_001264891.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 540,
"cds_start": 1276,
"cds_end": null,
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"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Arg266Cys",
"transcript": "NM_001382571.1",
"protein_id": "NP_001369500.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 525,
"cds_start": 796,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263Cys",
"transcript": "NM_001382581.1",
"protein_id": "NP_001369510.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 522,
"cds_start": 787,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
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],
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.714,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
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{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000526596.2",
"gene_symbol": "STIM1",
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],
"inheritance_mode": "AD,AR",
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],
"clinvar_disease": "Combined immunodeficiency due to STIM1 deficiency,Myopathy with tubular aggregates,Stormorken syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Combined immunodeficiency due to STIM1 deficiency|Myopathy with tubular aggregates;Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}