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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: 15-42410912-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42410912&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42410912,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000397163.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Asp764Asp",
"transcript": "NM_000070.3",
"protein_id": "NP_000061.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 821,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": "ENST00000397163.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Asp764Asp",
"transcript": "ENST00000397163.8",
"protein_id": "ENSP00000380349.3",
"transcript_support_level": 1,
"aa_start": 764,
"aa_end": null,
"aa_length": 821,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": "NM_000070.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2274C>T",
"hgvs_p": "p.Asp758Asp",
"transcript": "ENST00000357568.8",
"protein_id": "ENSP00000350181.3",
"transcript_support_level": 1,
"aa_start": 758,
"aa_end": null,
"aa_length": 815,
"cds_start": 2274,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2016C>T",
"hgvs_p": "p.Asp672Asp",
"transcript": "ENST00000349748.8",
"protein_id": "ENSP00000183936.4",
"transcript_support_level": 1,
"aa_start": 672,
"aa_end": null,
"aa_length": 729,
"cds_start": 2016,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.756C>T",
"hgvs_p": "p.Asp252Asp",
"transcript": "ENST00000397200.8",
"protein_id": "ENSP00000380384.4",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 309,
"cds_start": 756,
"cds_end": null,
"cds_length": 930,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asp99Asp",
"transcript": "ENST00000561817.5",
"protein_id": "ENSP00000456575.1",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 191,
"cds_start": 297,
"cds_end": null,
"cds_length": 576,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asp99Asp",
"transcript": "ENST00000337571.9",
"protein_id": "ENSP00000336840.4",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 156,
"cds_start": 297,
"cds_end": null,
"cds_length": 471,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asp99Asp",
"transcript": "ENST00000397204.9",
"protein_id": "ENSP00000380387.4",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 156,
"cds_start": 297,
"cds_end": null,
"cds_length": 471,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asp99Asp",
"transcript": "ENST00000673886.1",
"protein_id": "ENSP00000501155.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 156,
"cds_start": 297,
"cds_end": null,
"cds_length": 471,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asp99Asp",
"transcript": "ENST00000673928.1",
"protein_id": "ENSP00000501099.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 156,
"cds_start": 297,
"cds_end": null,
"cds_length": 471,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asp99Asp",
"transcript": "ENST00000674146.1",
"protein_id": "ENSP00000501175.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 156,
"cds_start": 297,
"cds_end": null,
"cds_length": 471,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asp99Asp",
"transcript": "ENST00000674149.1",
"protein_id": "ENSP00000501112.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 156,
"cds_start": 297,
"cds_end": null,
"cds_length": 471,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.195C>T",
"hgvs_p": "p.Asp65Asp",
"transcript": "ENST00000673743.1",
"protein_id": "ENSP00000500989.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 122,
"cds_start": 195,
"cds_end": null,
"cds_length": 369,
"cdna_start": 823,
"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": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258461",
"gene_hgnc_id": null,
"hgvs_c": "n.*2728C>T",
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258461",
"gene_hgnc_id": null,
"hgvs_c": "n.*2728C>T",
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2274C>T",
"hgvs_p": "p.Asp758Asp",
"transcript": "NM_024344.2",
"protein_id": "NP_077320.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 815,
"cds_start": 2274,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2148C>T",
"hgvs_p": "p.Asp716Asp",
"transcript": "ENST00000318023.11",
"protein_id": "ENSP00000326281.8",
"transcript_support_level": 5,
"aa_start": 716,
"aa_end": null,
"aa_length": 773,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2454,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2016C>T",
"hgvs_p": "p.Asp672Asp",
"transcript": "NM_173087.2",
"protein_id": "NP_775110.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 729,
"cds_start": 2016,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.756C>T",
"hgvs_p": "p.Asp252Asp",
"transcript": "NM_173088.2",
"protein_id": "NP_775111.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 309,
"cds_start": 756,
"cds_end": null,
"cds_length": 930,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.624C>T",
"hgvs_p": "p.Asp208Asp",
"transcript": "ENST00000569827.5",
"protein_id": "ENSP00000454379.1",
"transcript_support_level": 5,
"aa_start": 208,
"aa_end": null,
"aa_length": 254,
"cds_start": 624,
"cds_end": null,
"cds_length": 767,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.516C>T",
"hgvs_p": "p.Asp172Asp",
"transcript": "ENST00000674052.1",
"protein_id": "ENSP00000501057.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 229,
"cds_start": 516,
"cds_end": null,
"cds_length": 690,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Asp145Asp",
"transcript": "ENST00000673978.1",
"protein_id": "ENSP00000500976.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 202,
"cds_start": 435,
"cds_end": null,
"cds_length": 609,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.474C>T",
"hgvs_p": "p.Asp158Asp",
"transcript": "ENST00000674135.1",
"protein_id": "ENSP00000501178.1",
"transcript_support_level": null,
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],
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Autosomal recessive limb-girdle muscular dystrophy type 2A",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
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}