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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: 10-69947324-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69947324&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 69947324,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000645393.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.2040C>T",
"hgvs_p": "p.Pro680Pro",
"transcript": "NM_001368882.1",
"protein_id": "NP_001355811.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 728,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": "ENST00000645393.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.2040C>T",
"hgvs_p": "p.Pro680Pro",
"transcript": "ENST00000645393.2",
"protein_id": "ENSP00000496051.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 728,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": "NM_001368882.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Pro669Pro",
"transcript": "NM_001130103.2",
"protein_id": "NP_001123575.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 717,
"cds_start": 2007,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Pro669Pro",
"transcript": "ENST00000398978.8",
"protein_id": "ENSP00000381949.3",
"transcript_support_level": 5,
"aa_start": 669,
"aa_end": null,
"aa_length": 717,
"cds_start": 2007,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1941C>T",
"hgvs_p": "p.Pro647Pro",
"transcript": "NM_080801.4",
"protein_id": "NP_542991.3",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 695,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2459,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1941C>T",
"hgvs_p": "p.Pro647Pro",
"transcript": "ENST00000354547.7",
"protein_id": "ENSP00000346553.3",
"transcript_support_level": 5,
"aa_start": 647,
"aa_end": null,
"aa_length": 695,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1914C>T",
"hgvs_p": "p.Pro638Pro",
"transcript": "NM_080800.4",
"protein_id": "NP_542990.3",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 686,
"cds_start": 1914,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2432,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1914C>T",
"hgvs_p": "p.Pro638Pro",
"transcript": "ENST00000522165.5",
"protein_id": "ENSP00000428342.1",
"transcript_support_level": 5,
"aa_start": 638,
"aa_end": null,
"aa_length": 686,
"cds_start": 1914,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1917C>T",
"hgvs_p": "p.Pro639Pro",
"transcript": "NM_001368883.1",
"protein_id": "NP_001355812.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 684,
"cds_start": 1917,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2435,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1917C>T",
"hgvs_p": "p.Pro639Pro",
"transcript": "ENST00000357811.8",
"protein_id": "ENSP00000350463.4",
"transcript_support_level": 5,
"aa_start": 639,
"aa_end": null,
"aa_length": 684,
"cds_start": 1917,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1896C>T",
"hgvs_p": "p.Pro632Pro",
"transcript": "NM_001320951.2",
"protein_id": "NP_001307880.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 680,
"cds_start": 1896,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Pro620Pro",
"transcript": "NM_080802.4",
"protein_id": "NP_542992.3",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 668,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Pro620Pro",
"transcript": "ENST00000517713.5",
"protein_id": "ENSP00000430061.1",
"transcript_support_level": 5,
"aa_start": 620,
"aa_end": null,
"aa_length": 668,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1854C>T",
"hgvs_p": "p.Pro618Pro",
"transcript": "NM_001368884.1",
"protein_id": "NP_001355813.1",
"transcript_support_level": null,
"aa_start": 618,
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"aa_length": 666,
"cds_start": 1854,
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"cdna_start": 2372,
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"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1854C>T",
"hgvs_p": "p.Pro618Pro",
"transcript": "ENST00000673641.2",
"protein_id": "ENSP00000501125.2",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 663,
"cds_start": 1854,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1830C>T",
"hgvs_p": "p.Pro610Pro",
"transcript": "ENST00000673842.1",
"protein_id": "ENSP00000501058.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
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"cds_start": 1830,
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"cdna_start": 2183,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1827C>T",
"hgvs_p": "p.Pro609Pro",
"transcript": "NM_001368895.1",
"protein_id": "NP_001355824.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 657,
"cds_start": 1827,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2345,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Pro606Pro",
"transcript": "NM_001368885.1",
"protein_id": "NP_001355814.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 651,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2336,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Pro606Pro",
"transcript": "ENST00000673628.2",
"protein_id": "ENSP00000501050.2",
"transcript_support_level": null,
"aa_start": 606,
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"cds_start": 1818,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1791C>T",
"hgvs_p": "p.Pro597Pro",
"transcript": "NM_080798.4",
"protein_id": "NP_542988.3",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 645,
"cds_start": 1791,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1791C>T",
"hgvs_p": "p.Pro597Pro",
"transcript": "ENST00000520267.5",
"protein_id": "ENSP00000428057.1",
"transcript_support_level": 5,
"aa_start": 597,
"aa_end": null,
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"cds_start": 1791,
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"cdna_start": 2097,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.1749C>T",
"hgvs_p": "p.Pro583Pro",
"transcript": "NM_001368896.1",
"protein_id": "NP_001355825.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 628,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
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"splice_source_selected": "max_spliceai",
"revel_score": 0.616,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.469,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000645393.2",
"gene_symbol": "COL13A1",
"hgnc_id": 2190,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2040C>T",
"hgvs_p": "p.Pro680Pro"
}
],
"clinvar_disease": "Congenital myasthenic syndrome 19",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Congenital myasthenic syndrome 19",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}