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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: 16-84744726-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84744726&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84744726,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001272075.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "NM_005153.3",
"protein_id": "NP_005144.2",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 798,
"cds_start": 245,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000219473.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005153.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000219473.12",
"protein_id": "ENSP00000219473.7",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 798,
"cds_start": 245,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005153.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219473.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "n.184C>T",
"hgvs_p": null,
"transcript": "ENST00000540269.6",
"protein_id": "ENSP00000445589.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540269.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000933625.1",
"protein_id": "ENSP00000603684.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 833,
"cds_start": 245,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933625.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Ile",
"transcript": "NM_001272075.2",
"protein_id": "NP_001259004.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 802,
"cds_start": 257,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272075.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Ile",
"transcript": "ENST00000570191.5",
"protein_id": "ENSP00000457411.1",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 802,
"cds_start": 257,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570191.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000933618.1",
"protein_id": "ENSP00000603677.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 796,
"cds_start": 245,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933618.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000933621.1",
"protein_id": "ENSP00000603680.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 795,
"cds_start": 245,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933621.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000933626.1",
"protein_id": "ENSP00000603685.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 795,
"cds_start": 245,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933626.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000933624.1",
"protein_id": "ENSP00000603683.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 778,
"cds_start": 245,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933624.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000933617.1",
"protein_id": "ENSP00000603676.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 775,
"cds_start": 176,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933617.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000933622.1",
"protein_id": "ENSP00000603681.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 754,
"cds_start": 245,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933622.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000853354.1",
"protein_id": "ENSP00000523413.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 712,
"cds_start": 245,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853354.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000853355.1",
"protein_id": "ENSP00000523414.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 694,
"cds_start": 245,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853355.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000853352.1",
"protein_id": "ENSP00000523411.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 644,
"cds_start": 245,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853352.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000853353.1",
"protein_id": "ENSP00000523412.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 459,
"cds_start": 245,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853353.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Thr76Ile",
"transcript": "ENST00000562283.5",
"protein_id": "ENSP00000455712.1",
"transcript_support_level": 4,
"aa_start": 76,
"aa_end": null,
"aa_length": 140,
"cds_start": 227,
"cds_end": null,
"cds_length": 424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562283.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Thr87Ile",
"transcript": "XM_047434876.1",
"protein_id": "XP_047290832.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 781,
"cds_start": 260,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.-344C>T",
"hgvs_p": null,
"transcript": "XM_006721332.2",
"protein_id": "XP_006721395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": null,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721332.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.-344C>T",
"hgvs_p": null,
"transcript": "XM_011523443.2",
"protein_id": "XP_011521745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": null,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523443.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.-344C>T",
"hgvs_p": null,
"transcript": "XM_017023868.2",
"protein_id": "XP_016879357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": null,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023868.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP10",
"gene_hgnc_id": 12608,
"hgvs_c": "c.-344C>T",
"hgvs_p": null,
"transcript": "XM_047434877.1",
"protein_id": "XP_047290833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": null,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434877.1"
},
{
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}