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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: 16-89544764-ACG-CGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89544764&ref=ACG&alt=CGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPG7",
"hgnc_id": 11237,
"hgvs_c": "c.1441_1443delACGinsCGC",
"hgvs_p": "p.Thr481Arg",
"inheritance_mode": "AR,AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001363850.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"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": 795,
"aa_ref": "T",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003119.4",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1441_1443delACGinsCGC",
"hgvs_p": "p.Thr481Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000645818.2",
"protein_coding": true,
"protein_id": "NP_003110.1",
"strand": true,
"transcript": "NM_003119.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 795,
"aa_ref": "T",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645818.2",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1441_1443delACGinsCGC",
"hgvs_p": "p.Thr481Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003119.4",
"protein_coding": true,
"protein_id": "ENSP00000495795.2",
"strand": true,
"transcript": "ENST00000645818.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 788,
"aa_ref": "T",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000268704.7",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1420_1422delACGinsCGC",
"hgvs_p": "p.Thr474Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000268704.3",
"strand": true,
"transcript": "ENST00000268704.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 825,
"aa_ref": "T",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918773.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1531_1533delACGinsCGC",
"hgvs_p": "p.Thr511Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588832.1",
"strand": true,
"transcript": "ENST00000918773.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 820,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1516,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892261.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1516_1518delACGinsCGC",
"hgvs_p": "p.Thr506Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562320.1",
"strand": true,
"transcript": "ENST00000892261.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 809,
"aa_ref": "T",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3301,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363850.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1441_1443delACGinsCGC",
"hgvs_p": "p.Thr481Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350779.1",
"strand": true,
"transcript": "NM_001363850.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 809,
"aa_ref": "T",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645063.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1441_1443delACGinsCGC",
"hgvs_p": "p.Thr481Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493590.1",
"strand": true,
"transcript": "ENST00000645063.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 809,
"aa_ref": "T",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965633.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1441_1443delACGinsCGC",
"hgvs_p": "p.Thr481Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635692.1",
"strand": true,
"transcript": "ENST00000965633.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 807,
"aa_ref": "T",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3104,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965632.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1441_1443delACGinsCGC",
"hgvs_p": "p.Thr481Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635691.1",
"strand": true,
"transcript": "ENST00000965632.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 794,
"aa_ref": "T",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 2385,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918772.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1441_1443delACGinsCGC",
"hgvs_p": "p.Thr481Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588831.1",
"strand": true,
"transcript": "ENST00000918772.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 781,
"aa_ref": "T",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 2346,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918771.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1399_1401delACGinsCGC",
"hgvs_p": "p.Thr467Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588830.1",
"strand": true,
"transcript": "ENST00000918771.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 780,
"aa_ref": "T",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644781.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1441_1443delACGinsCGC",
"hgvs_p": "p.Thr481Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495473.1",
"strand": true,
"transcript": "ENST00000644781.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 758,
"aa_ref": "T",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643649.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1441_1443delACGinsCGC",
"hgvs_p": "p.Thr481Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494806.1",
"strand": true,
"transcript": "ENST00000643649.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646303.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1309_1311delACGinsCGC",
"hgvs_p": "p.Thr437Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494160.1",
"strand": true,
"transcript": "ENST00000646303.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 730,
"aa_ref": "T",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892262.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1246_1248delACGinsCGC",
"hgvs_p": "p.Thr416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562321.1",
"strand": true,
"transcript": "ENST00000892262.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965630.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1441_1443delACGinsCGC",
"hgvs_p": "p.Thr481Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635689.1",
"strand": true,
"transcript": "ENST00000965630.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 680,
"aa_ref": "T",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644671.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1096_1098delACGinsCGC",
"hgvs_p": "p.Thr366Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495999.1",
"strand": true,
"transcript": "ENST00000644671.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965631.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1072_1074delACGinsCGC",
"hgvs_p": "p.Thr358Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635690.1",
"strand": true,
"transcript": "ENST00000965631.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 661,
"aa_ref": "T",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965634.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1441_1443delACGinsCGC",
"hgvs_p": "p.Thr481Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635693.1",
"strand": true,
"transcript": "ENST00000965634.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 659,
"aa_ref": "T",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647079.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1033_1035delACGinsCGC",
"hgvs_p": "p.Thr345Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495967.1",
"strand": true,
"transcript": "ENST00000647079.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 616,
"aa_ref": "T",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1054,
"consequences": [
"missense_variant"
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