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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: 15-42410933-A-AGAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42410933&ref=A&alt=AGAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42410933,
"ref": "A",
"alt": "AGAC",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000397163.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.2314_2316dupGAC",
"hgvs_p": "p.Asp772dup",
"transcript": "NM_000070.3",
"protein_id": "NP_000061.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 821,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2622,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": "ENST00000397163.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.2314_2316dupGAC",
"hgvs_p": "p.Asp772dup",
"transcript": "ENST00000397163.8",
"protein_id": "ENSP00000380349.3",
"transcript_support_level": 1,
"aa_start": 773,
"aa_end": null,
"aa_length": 821,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2622,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": "NM_000070.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.2296_2298dupGAC",
"hgvs_p": "p.Asp766dup",
"transcript": "ENST00000357568.8",
"protein_id": "ENSP00000350181.3",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 815,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.2038_2040dupGAC",
"hgvs_p": "p.Asp680dup",
"transcript": "ENST00000349748.8",
"protein_id": "ENSP00000183936.4",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 729,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.778_780dupGAC",
"hgvs_p": "p.Asp260dup",
"transcript": "ENST00000397200.8",
"protein_id": "ENSP00000380384.4",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 309,
"cds_start": 781,
"cds_end": null,
"cds_length": 930,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.319_321dupGAC",
"hgvs_p": "p.Asp107dup",
"transcript": "ENST00000561817.5",
"protein_id": "ENSP00000456575.1",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 191,
"cds_start": 322,
"cds_end": null,
"cds_length": 576,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.319_321dupGAC",
"hgvs_p": "p.Asp107dup",
"transcript": "ENST00000337571.9",
"protein_id": "ENSP00000336840.4",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 156,
"cds_start": 322,
"cds_end": null,
"cds_length": 471,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.319_321dupGAC",
"hgvs_p": "p.Asp107dup",
"transcript": "ENST00000397204.9",
"protein_id": "ENSP00000380387.4",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 156,
"cds_start": 322,
"cds_end": null,
"cds_length": 471,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.319_321dupGAC",
"hgvs_p": "p.Asp107dup",
"transcript": "ENST00000673886.1",
"protein_id": "ENSP00000501155.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 156,
"cds_start": 322,
"cds_end": null,
"cds_length": 471,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.319_321dupGAC",
"hgvs_p": "p.Asp107dup",
"transcript": "ENST00000673928.1",
"protein_id": "ENSP00000501099.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 156,
"cds_start": 322,
"cds_end": null,
"cds_length": 471,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.319_321dupGAC",
"hgvs_p": "p.Asp107dup",
"transcript": "ENST00000674146.1",
"protein_id": "ENSP00000501175.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 156,
"cds_start": 322,
"cds_end": null,
"cds_length": 471,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.319_321dupGAC",
"hgvs_p": "p.Asp107dup",
"transcript": "ENST00000674149.1",
"protein_id": "ENSP00000501112.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 156,
"cds_start": 322,
"cds_end": null,
"cds_length": 471,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.217_219dupGAC",
"hgvs_p": "p.Asp73dup",
"transcript": "ENST00000673743.1",
"protein_id": "ENSP00000500989.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 122,
"cds_start": 220,
"cds_end": null,
"cds_length": 369,
"cdna_start": 848,
"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.*2750_*2752dupGAC",
"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.*2750_*2752dupGAC",
"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": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.2296_2298dupGAC",
"hgvs_p": "p.Asp766dup",
"transcript": "NM_024344.2",
"protein_id": "NP_077320.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 815,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.2170_2172dupGAC",
"hgvs_p": "p.Asp724dup",
"transcript": "ENST00000318023.11",
"protein_id": "ENSP00000326281.8",
"transcript_support_level": 5,
"aa_start": 725,
"aa_end": null,
"aa_length": 773,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2479,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.2038_2040dupGAC",
"hgvs_p": "p.Asp680dup",
"transcript": "NM_173087.2",
"protein_id": "NP_775110.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 729,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.778_780dupGAC",
"hgvs_p": "p.Asp260dup",
"transcript": "NM_173088.2",
"protein_id": "NP_775111.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 309,
"cds_start": 781,
"cds_end": null,
"cds_length": 930,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.646_648dupGAC",
"hgvs_p": "p.Asp216dup",
"transcript": "ENST00000569827.5",
"protein_id": "ENSP00000454379.1",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 254,
"cds_start": 649,
"cds_end": null,
"cds_length": 767,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.538_540dupGAC",
"hgvs_p": "p.Asp180dup",
"transcript": "ENST00000674052.1",
"protein_id": "ENSP00000501057.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 229,
"cds_start": 541,
"cds_end": null,
"cds_length": 690,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.457_459dupGAC",
"hgvs_p": "p.Asp153dup",
"transcript": "ENST00000673978.1",
"protein_id": "ENSP00000500976.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 202,
"cds_start": 460,
"cds_end": null,
"cds_length": 609,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "DK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
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{
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"PM4_Supporting"
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"verdict": "Uncertain_significance",
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"effects": [
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{
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],
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],
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}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2A,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2A|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}