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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: 11-4091777-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=4091777&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 4091777,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000526596.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.2130T>C",
"hgvs_p": "p.Phe710Phe",
"transcript": "NM_001382567.1",
"protein_id": "NP_001369496.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 716,
"cds_start": 2130,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2737,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": "ENST00000526596.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.2130T>C",
"hgvs_p": "p.Phe710Phe",
"transcript": "ENST00000526596.2",
"protein_id": "ENSP00000433266.2",
"transcript_support_level": 5,
"aa_start": 710,
"aa_end": null,
"aa_length": 716,
"cds_start": 2130,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2737,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": "NM_001382567.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.2355T>C",
"hgvs_p": "p.Phe785Phe",
"transcript": "ENST00000616714.4",
"protein_id": "ENSP00000478059.1",
"transcript_support_level": 1,
"aa_start": 785,
"aa_end": null,
"aa_length": 791,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2923,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Phe679Phe",
"transcript": "ENST00000300737.8",
"protein_id": "ENSP00000300737.4",
"transcript_support_level": 1,
"aa_start": 679,
"aa_end": null,
"aa_length": 685,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Phe506Phe",
"transcript": "ENST00000533977.5",
"protein_id": "ENSP00000434767.1",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 512,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.*451T>C",
"hgvs_p": null,
"transcript": "ENST00000527651.5",
"protein_id": "ENSP00000436208.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.2355T>C",
"hgvs_p": "p.Phe785Phe",
"transcript": "NM_001277961.3",
"protein_id": "NP_001264890.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 791,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2923,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.2133T>C",
"hgvs_p": "p.Phe711Phe",
"transcript": "NM_001382566.1",
"protein_id": "NP_001369495.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 717,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.2133T>C",
"hgvs_p": "p.Phe711Phe",
"transcript": "ENST00000698911.1",
"protein_id": "ENSP00000514025.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 717,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2440,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.2121T>C",
"hgvs_p": "p.Phe707Phe",
"transcript": "ENST00000698915.1",
"protein_id": "ENSP00000514029.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 713,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.2058T>C",
"hgvs_p": "p.Phe686Phe",
"transcript": "NM_001382568.1",
"protein_id": "NP_001369497.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 692,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.2058T>C",
"hgvs_p": "p.Phe686Phe",
"transcript": "ENST00000698916.1",
"protein_id": "ENSP00000514030.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 692,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2490,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Phe679Phe",
"transcript": "NM_003156.4",
"protein_id": "NP_003147.2",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 685,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1902T>C",
"hgvs_p": "p.Phe634Phe",
"transcript": "NM_001382569.1",
"protein_id": "NP_001369498.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 640,
"cds_start": 1902,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2513,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1815T>C",
"hgvs_p": "p.Phe605Phe",
"transcript": "NM_001382575.1",
"protein_id": "NP_001369504.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 611,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1815T>C",
"hgvs_p": "p.Phe605Phe",
"transcript": "NM_001382576.1",
"protein_id": "NP_001369505.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 611,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1815T>C",
"hgvs_p": "p.Phe605Phe",
"transcript": "NM_001382577.1",
"protein_id": "NP_001369506.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 611,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1815T>C",
"hgvs_p": "p.Phe605Phe",
"transcript": "ENST00000698913.1",
"protein_id": "ENSP00000514027.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 611,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1809T>C",
"hgvs_p": "p.Phe603Phe",
"transcript": "NM_001382570.1",
"protein_id": "NP_001369499.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 609,
"cds_start": 1809,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1557T>C",
"hgvs_p": "p.Phe519Phe",
"transcript": "NM_001382571.1",
"protein_id": "NP_001369500.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 525,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1548T>C",
"hgvs_p": "p.Phe516Phe",
"transcript": "NM_001382581.1",
"protein_id": "NP_001369510.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 522,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1548T>C",
"hgvs_p": "p.Phe516Phe",
"transcript": "ENST00000698910.1",
"protein_id": "ENSP00000514024.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 522,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
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}
],
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"hom_count_reference_population": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.431,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_classification": "Likely_benign",
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{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000526596.2",
"gene_symbol": "STIM1",
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],
"inheritance_mode": "AD,AR",
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],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Combined immunodeficiency due to STIM1 deficiency;Myopathy with tubular aggregates;Stormorken syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}