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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: 15-42411296-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42411296&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42411296,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000397163.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2390A>G",
"hgvs_p": "p.His797Arg",
"transcript": "NM_000070.3",
"protein_id": "NP_000061.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 821,
"cds_start": 2390,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2695,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": "ENST00000397163.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2390A>G",
"hgvs_p": "p.His797Arg",
"transcript": "ENST00000397163.8",
"protein_id": "ENSP00000380349.3",
"transcript_support_level": 1,
"aa_start": 797,
"aa_end": null,
"aa_length": 821,
"cds_start": 2390,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2695,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": "NM_000070.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2372A>G",
"hgvs_p": "p.His791Arg",
"transcript": "ENST00000357568.8",
"protein_id": "ENSP00000350181.3",
"transcript_support_level": 1,
"aa_start": 791,
"aa_end": null,
"aa_length": 815,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2593,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2114A>G",
"hgvs_p": "p.His705Arg",
"transcript": "ENST00000349748.8",
"protein_id": "ENSP00000183936.4",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 729,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.His285Arg",
"transcript": "ENST00000397200.8",
"protein_id": "ENSP00000380384.4",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 309,
"cds_start": 854,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.His132Arg",
"transcript": "ENST00000561817.5",
"protein_id": "ENSP00000456575.1",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 191,
"cds_start": 395,
"cds_end": null,
"cds_length": 576,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.His132Arg",
"transcript": "ENST00000337571.9",
"protein_id": "ENSP00000336840.4",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 156,
"cds_start": 395,
"cds_end": null,
"cds_length": 471,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.His132Arg",
"transcript": "ENST00000397204.9",
"protein_id": "ENSP00000380387.4",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 156,
"cds_start": 395,
"cds_end": null,
"cds_length": 471,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.His132Arg",
"transcript": "ENST00000673886.1",
"protein_id": "ENSP00000501155.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 156,
"cds_start": 395,
"cds_end": null,
"cds_length": 471,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.His132Arg",
"transcript": "ENST00000673928.1",
"protein_id": "ENSP00000501099.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 156,
"cds_start": 395,
"cds_end": null,
"cds_length": 471,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.His132Arg",
"transcript": "ENST00000674146.1",
"protein_id": "ENSP00000501175.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 156,
"cds_start": 395,
"cds_end": null,
"cds_length": 471,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.His132Arg",
"transcript": "ENST00000674149.1",
"protein_id": "ENSP00000501112.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 156,
"cds_start": 395,
"cds_end": null,
"cds_length": 471,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.293A>G",
"hgvs_p": "p.His98Arg",
"transcript": "ENST00000673743.1",
"protein_id": "ENSP00000500989.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 122,
"cds_start": 293,
"cds_end": null,
"cds_length": 369,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258461",
"gene_hgnc_id": null,
"hgvs_c": "n.*2826A>G",
"hgvs_p": null,
"transcript": "ENST00000495723.1",
"protein_id": "ENSP00000492063.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258461",
"gene_hgnc_id": null,
"hgvs_c": "n.*2826A>G",
"hgvs_p": null,
"transcript": "ENST00000495723.1",
"protein_id": "ENSP00000492063.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2372A>G",
"hgvs_p": "p.His791Arg",
"transcript": "NM_024344.2",
"protein_id": "NP_077320.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 815,
"cds_start": 2372,
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"cdna_start": 2677,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2246A>G",
"hgvs_p": "p.His749Arg",
"transcript": "ENST00000318023.11",
"protein_id": "ENSP00000326281.8",
"transcript_support_level": 5,
"aa_start": 749,
"aa_end": null,
"aa_length": 773,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2114A>G",
"hgvs_p": "p.His705Arg",
"transcript": "NM_173087.2",
"protein_id": "NP_775110.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 729,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.His285Arg",
"transcript": "NM_173088.2",
"protein_id": "NP_775111.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 309,
"cds_start": 854,
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"cdna_start": 1046,
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"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.His241Arg",
"transcript": "ENST00000569827.5",
"protein_id": "ENSP00000454379.1",
"transcript_support_level": 5,
"aa_start": 241,
"aa_end": null,
"aa_length": 254,
"cds_start": 722,
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"cdna_start": 863,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.614A>G",
"hgvs_p": "p.His205Arg",
"transcript": "ENST00000674052.1",
"protein_id": "ENSP00000501057.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 229,
"cds_start": 614,
"cds_end": null,
"cds_length": 690,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.533A>G",
"hgvs_p": "p.His178Arg",
"transcript": "ENST00000673978.1",
"protein_id": "ENSP00000500976.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 202,
"cds_start": 533,
"cds_end": null,
"cds_length": 609,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.His191Arg",
"transcript": "ENST00000674135.1",
"protein_id": "ENSP00000501178.1",
"transcript_support_level": null,
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],
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}
],
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}