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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: 6-99443598-AG-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=99443598&ref=AG&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "USP45",
"hgnc_id": 20080,
"hgvs_c": "c.2039_2040delCTinsTC",
"hgvs_p": "p.Ala680Val",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001080481.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "PNISR-AS1",
"hgnc_id": 40958,
"hgvs_c": "n.979+17700_979+17701delAGinsGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000720989.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 814,
"aa_ref": "A",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5878,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346022.3",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.2039_2040delCTinsTC",
"hgvs_p": "p.Ala680Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000500704.7",
"protein_coding": true,
"protein_id": "NP_001332951.1",
"strand": false,
"transcript": "NM_001346022.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 814,
"aa_ref": "A",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5878,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000500704.7",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.2039_2040delCTinsTC",
"hgvs_p": "p.Ala680Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001346022.3",
"protein_coding": true,
"protein_id": "ENSP00000424372.1",
"strand": false,
"transcript": "ENST00000500704.7",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 814,
"aa_ref": "A",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6255,
"cdna_start": 2573,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000327681.10",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.2039_2040delCTinsTC",
"hgvs_p": "p.Ala680Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000333376.6",
"strand": false,
"transcript": "ENST00000327681.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000496518.6",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "n.*1005_*1006delCTinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421248.1",
"strand": false,
"transcript": "ENST00000496518.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000496518.6",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "n.*1005_*1006delCTinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421248.1",
"strand": false,
"transcript": "ENST00000496518.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 814,
"aa_ref": "A",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6416,
"cdna_start": 2620,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001080481.3",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.2039_2040delCTinsTC",
"hgvs_p": "p.Ala680Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073950.1",
"strand": false,
"transcript": "NM_001080481.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 814,
"aa_ref": "A",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7229,
"cdna_start": 3433,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346021.3",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.2039_2040delCTinsTC",
"hgvs_p": "p.Ala680Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332950.1",
"strand": false,
"transcript": "NM_001346021.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 814,
"aa_ref": "A",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5756,
"cdna_start": 2079,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917069.1",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.2039_2040delCTinsTC",
"hgvs_p": "p.Ala680Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587128.1",
"strand": false,
"transcript": "ENST00000917069.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 813,
"aa_ref": "A",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5875,
"cdna_start": 2079,
"cds_end": null,
"cds_length": 2442,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346023.3",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.2036_2037delCTinsTC",
"hgvs_p": "p.Ala679Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332952.1",
"strand": false,
"transcript": "NM_001346023.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 813,
"aa_ref": "A",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 2442,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917068.1",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.2036_2037delCTinsTC",
"hgvs_p": "p.Ala679Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587127.1",
"strand": false,
"transcript": "ENST00000917068.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 796,
"aa_ref": "A",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917070.1",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.1985_1986delCTinsTC",
"hgvs_p": "p.Ala662Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587129.1",
"strand": false,
"transcript": "ENST00000917070.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 766,
"aa_ref": "A",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1895,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369233.6",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.1895_1896delCTinsTC",
"hgvs_p": "p.Ala632Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358236.2",
"strand": false,
"transcript": "ENST00000369233.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 756,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5704,
"cdna_start": 1908,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1865,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346024.3",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.1865_1866delCTinsTC",
"hgvs_p": "p.Ala622Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332953.1",
"strand": false,
"transcript": "NM_001346024.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 755,
"aa_ref": "A",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5701,
"cdna_start": 1905,
"cds_end": null,
"cds_length": 2268,
"cds_start": 1862,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346025.3",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.1862_1863delCTinsTC",
"hgvs_p": "p.Ala621Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332954.1",
"strand": false,
"transcript": "NM_001346025.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 721,
"aa_ref": "A",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5724,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 2166,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346026.3",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.2039_2040delCTinsTC",
"hgvs_p": "p.Ala680Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332955.1",
"strand": false,
"transcript": "NM_001346026.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 454,
"aa_ref": "A",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5923,
"cdna_start": 2127,
"cds_end": null,
"cds_length": 1365,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346027.3",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.959_960delCTinsTC",
"hgvs_p": "p.Ala320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332956.1",
"strand": false,
"transcript": "NM_001346027.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 454,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5786,
"cdna_start": 1990,
"cds_end": null,
"cds_length": 1365,
"cds_start": 959,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346028.3",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.959_960delCTinsTC",
"hgvs_p": "p.Ala320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332957.1",
"strand": false,
"transcript": "NM_001346028.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 454,
"aa_ref": "A",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7271,
"cdna_start": 3475,
"cds_end": null,
"cds_length": 1365,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346029.3",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.959_960delCTinsTC",
"hgvs_p": "p.Ala320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332958.1",
"strand": false,
"transcript": "NM_001346029.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 814,
"aa_ref": "A",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8017,
"cdna_start": 4221,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005267170.5",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.2039_2040delCTinsTC",
"hgvs_p": "p.Ala680Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005267227.1",
"strand": false,
"transcript": "XM_005267170.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 814,
"aa_ref": "A",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6214,
"cdna_start": 2418,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047419422.1",
"gene_hgnc_id": 20080,
"gene_symbol": "USP45",
"hgvs_c": "c.2039_2040delCTinsTC",
"hgvs_p": "p.Ala680Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275378.1",
"strand": false,
"transcript": "XM_047419422.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 721,
"aa_ref": "A",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6262,
"cdna_start": 2620,
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