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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: 6-99446062-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=99446062&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 99446062,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000500704.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1710A>T",
"hgvs_p": "p.Gly570Gly",
"transcript": "NM_001346022.3",
"protein_id": "NP_001332951.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 814,
"cds_start": 1710,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "ENST00000500704.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1710A>T",
"hgvs_p": "p.Gly570Gly",
"transcript": "ENST00000500704.7",
"protein_id": "ENSP00000424372.1",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 814,
"cds_start": 1710,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "NM_001346022.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1710A>T",
"hgvs_p": "p.Gly570Gly",
"transcript": "ENST00000327681.10",
"protein_id": "ENSP00000333376.6",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 814,
"cds_start": 1710,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 6255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "n.*676A>T",
"hgvs_p": null,
"transcript": "ENST00000496518.6",
"protein_id": "ENSP00000421248.1",
"transcript_support_level": 1,
"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": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "n.*676A>T",
"hgvs_p": null,
"transcript": "ENST00000496518.6",
"protein_id": "ENSP00000421248.1",
"transcript_support_level": 1,
"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": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1710A>T",
"hgvs_p": "p.Gly570Gly",
"transcript": "NM_001080481.3",
"protein_id": "NP_001073950.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 814,
"cds_start": 1710,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1710A>T",
"hgvs_p": "p.Gly570Gly",
"transcript": "NM_001346021.3",
"protein_id": "NP_001332950.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 814,
"cds_start": 1710,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 3103,
"cdna_end": null,
"cdna_length": 7229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1707A>T",
"hgvs_p": "p.Gly569Gly",
"transcript": "NM_001346023.3",
"protein_id": "NP_001332952.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 813,
"cds_start": 1707,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 5875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1566A>T",
"hgvs_p": "p.Gly522Gly",
"transcript": "ENST00000369233.6",
"protein_id": "ENSP00000358236.2",
"transcript_support_level": 5,
"aa_start": 522,
"aa_end": null,
"aa_length": 766,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1536A>T",
"hgvs_p": "p.Gly512Gly",
"transcript": "NM_001346024.3",
"protein_id": "NP_001332953.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 756,
"cds_start": 1536,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 5704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1533A>T",
"hgvs_p": "p.Gly511Gly",
"transcript": "NM_001346025.3",
"protein_id": "NP_001332954.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 755,
"cds_start": 1533,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1710A>T",
"hgvs_p": "p.Gly570Gly",
"transcript": "NM_001346026.3",
"protein_id": "NP_001332955.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 721,
"cds_start": 1710,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 5724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.630A>T",
"hgvs_p": "p.Gly210Gly",
"transcript": "NM_001346027.3",
"protein_id": "NP_001332956.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 454,
"cds_start": 630,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 5923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.630A>T",
"hgvs_p": "p.Gly210Gly",
"transcript": "NM_001346028.3",
"protein_id": "NP_001332957.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 454,
"cds_start": 630,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 5786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.630A>T",
"hgvs_p": "p.Gly210Gly",
"transcript": "NM_001346029.3",
"protein_id": "NP_001332958.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 454,
"cds_start": 630,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 3145,
"cdna_end": null,
"cdna_length": 7271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1710A>T",
"hgvs_p": "p.Gly570Gly",
"transcript": "XM_005267170.5",
"protein_id": "XP_005267227.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 814,
"cds_start": 1710,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 3891,
"cdna_end": null,
"cdna_length": 8017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1710A>T",
"hgvs_p": "p.Gly570Gly",
"transcript": "XM_047419422.1",
"protein_id": "XP_047275378.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 814,
"cds_start": 1710,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 6214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1710A>T",
"hgvs_p": "p.Gly570Gly",
"transcript": "XM_047419423.1",
"protein_id": "XP_047275379.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 721,
"cds_start": 1710,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 6262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.672A>T",
"hgvs_p": "p.Gly224Gly",
"transcript": "XM_017011381.1",
"protein_id": "XP_016866870.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 468,
"cds_start": 672,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 5252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "n.701A>T",
"hgvs_p": null,
"transcript": "ENST00000513344.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "n.1660A>T",
"hgvs_p": null,
"transcript": "NR_144344.3",
"protein_id": null,
"transcript_support_level": null,
"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": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "n.1684A>T",
"hgvs_p": null,
"transcript": "NR_144346.3",
"protein_id": null,
"transcript_support_level": null,
"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": 5723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PNISR-AS1",
"gene_hgnc_id": 40958,
"hgvs_c": "n.979+20164T>A",
"hgvs_p": null,
"transcript": "ENST00000720989.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong",
"BP7"
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"verdict": "Likely_benign",
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}