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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: 17-82924992-CGC-TCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82924992&ref=CGC&alt=TCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TBCD",
"hgnc_id": 11581,
"hgvs_c": "c.2314_2316delCGCinsTCA",
"hgvs_p": "p.Arg772Ser",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_005993.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "S",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "R",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7159,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 3579,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005993.5",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2314_2316delCGCinsTCA",
"hgvs_p": "p.Arg772Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355528.9",
"protein_coding": true,
"protein_id": "NP_005984.3",
"strand": true,
"transcript": "NM_005993.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "R",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7159,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 3579,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355528.9",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2314_2316delCGCinsTCA",
"hgvs_p": "p.Arg772Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005993.5",
"protein_coding": true,
"protein_id": "ENSP00000347719.4",
"strand": true,
"transcript": "ENST00000355528.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000571796.5",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "n.972_974delCGCinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000571796.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7166,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000576677.6",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "n.1443_1445delCGCinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000576677.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "R",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7403,
"cdna_start": 2701,
"cds_end": null,
"cds_length": 3846,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684760.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2581_2583delCGCinsTCA",
"hgvs_p": "p.Arg861Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507696.1",
"strand": true,
"transcript": "ENST00000684760.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "R",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7322,
"cdna_start": 2620,
"cds_end": null,
"cds_length": 3765,
"cds_start": 2500,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684349.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2500_2502delCGCinsTCA",
"hgvs_p": "p.Arg834Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508067.1",
"strand": true,
"transcript": "ENST00000684349.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "R",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3975,
"cdna_start": 2350,
"cds_end": null,
"cds_length": 3693,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539345.6",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2314_2316delCGCinsTCA",
"hgvs_p": "p.Arg772Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440671.2",
"strand": true,
"transcript": "ENST00000539345.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "R",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4253,
"cdna_start": 2739,
"cds_end": null,
"cds_length": 3675,
"cds_start": 2410,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857311.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2410_2412delCGCinsTCA",
"hgvs_p": "p.Arg804Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527370.1",
"strand": true,
"transcript": "ENST00000857311.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "R",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7252,
"cdna_start": 2550,
"cds_end": null,
"cds_length": 3672,
"cds_start": 2407,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684464.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2407_2409delCGCinsTCA",
"hgvs_p": "p.Arg803Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508333.1",
"strand": true,
"transcript": "ENST00000684464.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "R",
"aa_start": 802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7258,
"cdna_start": 2556,
"cds_end": null,
"cds_length": 3669,
"cds_start": 2404,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682479.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2404_2406delCGCinsTCA",
"hgvs_p": "p.Arg802Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508214.1",
"strand": true,
"transcript": "ENST00000682479.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "R",
"aa_start": 800,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7100,
"cdna_start": 2398,
"cds_end": null,
"cds_length": 3663,
"cds_start": 2398,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684000.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2398_2400delCGCinsTCA",
"hgvs_p": "p.Arg800Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506795.1",
"strand": true,
"transcript": "ENST00000684000.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "R",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3999,
"cdna_start": 2488,
"cds_end": null,
"cds_length": 3624,
"cds_start": 2359,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959286.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2359_2361delCGCinsTCA",
"hgvs_p": "p.Arg787Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629345.1",
"strand": true,
"transcript": "ENST00000959286.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "R",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 3612,
"cds_start": 2347,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959289.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2347_2349delCGCinsTCA",
"hgvs_p": "p.Arg783Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629348.1",
"strand": true,
"transcript": "ENST00000959289.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "R",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 2434,
"cds_end": null,
"cds_length": 3606,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857314.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2314_2316delCGCinsTCA",
"hgvs_p": "p.Arg772Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527373.1",
"strand": true,
"transcript": "ENST00000857314.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1199,
"aa_ref": "R",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 2377,
"cds_end": null,
"cds_length": 3600,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857310.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2314_2316delCGCinsTCA",
"hgvs_p": "p.Arg772Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527369.1",
"strand": true,
"transcript": "ENST00000857310.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3956,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 3591,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959287.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2326_2328delCGCinsTCA",
"hgvs_p": "p.Arg776Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629346.1",
"strand": true,
"transcript": "ENST00000959287.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "R",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7233,
"cdna_start": 2513,
"cds_end": null,
"cds_length": 3579,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915788.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2314_2316delCGCinsTCA",
"hgvs_p": "p.Arg772Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585847.1",
"strand": true,
"transcript": "ENST00000915788.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7108,
"cdna_start": 2392,
"cds_end": null,
"cds_length": 3528,
"cds_start": 2263,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411101.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2263_2265delCGCinsTCA",
"hgvs_p": "p.Arg755Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398030.1",
"strand": true,
"transcript": "NM_001411101.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "R",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7111,
"cdna_start": 2409,
"cds_end": null,
"cds_length": 3528,
"cds_start": 2263,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682722.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2263_2265delCGCinsTCA",
"hgvs_p": "p.Arg755Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508364.1",
"strand": true,
"transcript": "ENST00000682722.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "R",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7168,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 3507,
"cds_start": 2242,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684429.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.2242_2244delCGCinsTCA",
"hgvs_p": "p.Arg748Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507224.1",
"strand": true,
"transcript": "ENST00000684429.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "R",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7078,
"cdna_start": 2362,
"cds_end": null,
"cds_length": 3498,
"cds_start": 2233,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
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