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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: 7-2539545-TCC-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2539545&ref=TCC&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "BRAT1",
"hgnc_id": 21701,
"hgvs_c": "c.1594_1596delGGAinsCGC",
"hgvs_p": "p.Gly532Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001350626.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"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": "R",
"aa_end": null,
"aa_length": 821,
"aa_ref": "G",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1650,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1594,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152743.4",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1594_1596delGGAinsCGC",
"hgvs_p": "p.Gly532Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340611.9",
"protein_coding": true,
"protein_id": "NP_689956.2",
"strand": false,
"transcript": "NM_152743.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 821,
"aa_ref": "G",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1650,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1594,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000340611.9",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1594_1596delGGAinsCGC",
"hgvs_p": "p.Gly532Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152743.4",
"protein_coding": true,
"protein_id": "ENSP00000339637.4",
"strand": false,
"transcript": "ENST00000340611.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 900,
"aa_ref": "G",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2703,
"cds_start": 1831,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890463.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1831_1833delGGAinsCGC",
"hgvs_p": "p.Gly611Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560522.1",
"strand": false,
"transcript": "ENST00000890463.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 899,
"aa_ref": "G",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 2700,
"cds_start": 1828,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917322.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1828_1830delGGAinsCGC",
"hgvs_p": "p.Gly610Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587381.1",
"strand": false,
"transcript": "ENST00000917322.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 890,
"aa_ref": "G",
"aa_start": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1801,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890472.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1801_1803delGGAinsCGC",
"hgvs_p": "p.Gly601Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560531.1",
"strand": false,
"transcript": "ENST00000890472.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 885,
"aa_ref": "G",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2927,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 2658,
"cds_start": 1786,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917323.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1786_1788delGGAinsCGC",
"hgvs_p": "p.Gly596Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587382.1",
"strand": false,
"transcript": "ENST00000917323.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 881,
"aa_ref": "G",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 1650,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1594,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350626.2",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1594_1596delGGAinsCGC",
"hgvs_p": "p.Gly532Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337555.1",
"strand": false,
"transcript": "NM_001350626.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 881,
"aa_ref": "G",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1594,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890462.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1594_1596delGGAinsCGC",
"hgvs_p": "p.Gly532Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560521.1",
"strand": false,
"transcript": "ENST00000890462.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 881,
"aa_ref": "G",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1594,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890481.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1594_1596delGGAinsCGC",
"hgvs_p": "p.Gly532Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560540.1",
"strand": false,
"transcript": "ENST00000890481.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 880,
"aa_ref": "G",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1591,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890470.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1591_1593delGGAinsCGC",
"hgvs_p": "p.Gly531Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560529.1",
"strand": false,
"transcript": "ENST00000890470.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 868,
"aa_ref": "G",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 2033,
"cds_end": null,
"cds_length": 2607,
"cds_start": 1735,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890464.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1735_1737delGGAinsCGC",
"hgvs_p": "p.Gly579Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560523.1",
"strand": false,
"transcript": "ENST00000890464.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 860,
"aa_ref": "G",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 1767,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1711,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970715.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1711_1713delGGAinsCGC",
"hgvs_p": "p.Gly571Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640774.1",
"strand": false,
"transcript": "ENST00000970715.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 856,
"aa_ref": "G",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1699,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917321.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1699_1701delGGAinsCGC",
"hgvs_p": "p.Gly567Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587380.1",
"strand": false,
"transcript": "ENST00000917321.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 849,
"aa_ref": "G",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 2550,
"cds_start": 1678,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890468.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1678_1680delGGAinsCGC",
"hgvs_p": "p.Gly560Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560527.1",
"strand": false,
"transcript": "ENST00000890468.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 848,
"aa_ref": "G",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 2547,
"cds_start": 1675,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917319.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1675_1677delGGAinsCGC",
"hgvs_p": "p.Gly559Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587378.1",
"strand": false,
"transcript": "ENST00000917319.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 840,
"aa_ref": "G",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1651,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890471.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1651_1653delGGAinsCGC",
"hgvs_p": "p.Gly551Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560530.1",
"strand": false,
"transcript": "ENST00000890471.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 840,
"aa_ref": "G",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1651,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890484.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1651_1653delGGAinsCGC",
"hgvs_p": "p.Gly551Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560543.1",
"strand": false,
"transcript": "ENST00000890484.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 840,
"aa_ref": "G",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1651,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970714.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1651_1653delGGAinsCGC",
"hgvs_p": "p.Gly551Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640773.1",
"strand": false,
"transcript": "ENST00000970714.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 839,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1648,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890474.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1648_1650delGGAinsCGC",
"hgvs_p": "p.Gly550Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560533.1",
"strand": false,
"transcript": "ENST00000890474.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 839,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1648,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890475.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1648_1650delGGAinsCGC",
"hgvs_p": "p.Gly550Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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}