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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: 15-42410621-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42410621&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42410621,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000397163.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2218G>A",
"hgvs_p": "p.Gly740Ser",
"transcript": "NM_000070.3",
"protein_id": "NP_000061.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 821,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": "ENST00000397163.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2218G>A",
"hgvs_p": "p.Gly740Ser",
"transcript": "ENST00000397163.8",
"protein_id": "ENSP00000380349.3",
"transcript_support_level": 1,
"aa_start": 740,
"aa_end": null,
"aa_length": 821,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": "NM_000070.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2200G>A",
"hgvs_p": "p.Gly734Ser",
"transcript": "ENST00000357568.8",
"protein_id": "ENSP00000350181.3",
"transcript_support_level": 1,
"aa_start": 734,
"aa_end": null,
"aa_length": 815,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Gly648Ser",
"transcript": "ENST00000349748.8",
"protein_id": "ENSP00000183936.4",
"transcript_support_level": 1,
"aa_start": 648,
"aa_end": null,
"aa_length": 729,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Gly228Ser",
"transcript": "ENST00000397200.8",
"protein_id": "ENSP00000380384.4",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 309,
"cds_start": 682,
"cds_end": null,
"cds_length": 930,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "ENST00000561817.5",
"protein_id": "ENSP00000456575.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 191,
"cds_start": 223,
"cds_end": null,
"cds_length": 576,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "ENST00000337571.9",
"protein_id": "ENSP00000336840.4",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 156,
"cds_start": 223,
"cds_end": null,
"cds_length": 471,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "ENST00000397204.9",
"protein_id": "ENSP00000380387.4",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 156,
"cds_start": 223,
"cds_end": null,
"cds_length": 471,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "ENST00000673886.1",
"protein_id": "ENSP00000501155.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 156,
"cds_start": 223,
"cds_end": null,
"cds_length": 471,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "ENST00000673928.1",
"protein_id": "ENSP00000501099.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 156,
"cds_start": 223,
"cds_end": null,
"cds_length": 471,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "ENST00000674146.1",
"protein_id": "ENSP00000501175.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 156,
"cds_start": 223,
"cds_end": null,
"cds_length": 471,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "ENST00000674149.1",
"protein_id": "ENSP00000501112.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 156,
"cds_start": 223,
"cds_end": null,
"cds_length": 471,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Gly41Ser",
"transcript": "ENST00000673743.1",
"protein_id": "ENSP00000500989.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 122,
"cds_start": 121,
"cds_end": null,
"cds_length": 369,
"cdna_start": 749,
"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": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258461",
"gene_hgnc_id": null,
"hgvs_c": "n.*2654G>A",
"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": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258461",
"gene_hgnc_id": null,
"hgvs_c": "n.*2654G>A",
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2200G>A",
"hgvs_p": "p.Gly734Ser",
"transcript": "NM_024344.2",
"protein_id": "NP_077320.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 815,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Gly692Ser",
"transcript": "ENST00000318023.11",
"protein_id": "ENSP00000326281.8",
"transcript_support_level": 5,
"aa_start": 692,
"aa_end": null,
"aa_length": 773,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Gly648Ser",
"transcript": "NM_173087.2",
"protein_id": "NP_775110.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 729,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Gly228Ser",
"transcript": "NM_173088.2",
"protein_id": "NP_775111.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 309,
"cds_start": 682,
"cds_end": null,
"cds_length": 930,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.550G>A",
"hgvs_p": "p.Gly184Ser",
"transcript": "ENST00000569827.5",
"protein_id": "ENSP00000454379.1",
"transcript_support_level": 5,
"aa_start": 184,
"aa_end": null,
"aa_length": 254,
"cds_start": 550,
"cds_end": null,
"cds_length": 767,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Gly148Ser",
"transcript": "ENST00000674052.1",
"protein_id": "ENSP00000501057.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 229,
"cds_start": 442,
"cds_end": null,
"cds_length": 690,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN3",
"gene_hgnc_id": 1480,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Gly121Ser",
"transcript": "ENST00000673978.1",
"protein_id": "ENSP00000500976.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 202,
"cds_start": 361,
"cds_end": null,
"cds_length": 609,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.400G>A",
"hgvs_p": "p.Gly134Ser",
"transcript": "ENST00000674135.1",
"protein_id": "ENSP00000501178.1",
"transcript_support_level": null,
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"bayesdelnoaf_prediction": "Pathogenic",
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{
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD,AR",
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"hgvs_p": "p.Gly740Ser"
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{
"score": 4,
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2A,CAPN3-related disorder,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Autosomal recessive limb-girdle muscular dystrophy type 2A|CAPN3-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}