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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: 16-58718561-CC-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58718561&ref=CC&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GOT2",
"hgnc_id": 4433,
"hgvs_c": "c.562_563delGGinsTC",
"hgvs_p": "p.Gly188Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_002080.4",
"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": "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": "S",
"aa_end": null,
"aa_length": 430,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 651,
"cds_end": null,
"cds_length": 1293,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002080.4",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.562_563delGGinsTC",
"hgvs_p": "p.Gly188Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000245206.10",
"protein_coding": true,
"protein_id": "NP_002071.2",
"strand": false,
"transcript": "NM_002080.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 430,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 651,
"cds_end": null,
"cds_length": 1293,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000245206.10",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.562_563delGGinsTC",
"hgvs_p": "p.Gly188Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002080.4",
"protein_coding": true,
"protein_id": "ENSP00000245206.5",
"strand": false,
"transcript": "ENST00000245206.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 663,
"cds_end": null,
"cds_length": 1404,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954610.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.562_563delGGinsTC",
"hgvs_p": "p.Gly188Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624669.1",
"strand": false,
"transcript": "ENST00000954610.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 439,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": 651,
"cds_end": null,
"cds_length": 1320,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857880.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.562_563delGGinsTC",
"hgvs_p": "p.Gly188Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527939.1",
"strand": false,
"transcript": "ENST00000857880.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 428,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1287,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916496.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.562_563delGGinsTC",
"hgvs_p": "p.Gly188Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586555.1",
"strand": false,
"transcript": "ENST00000916496.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 428,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2426,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1287,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954609.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.562_563delGGinsTC",
"hgvs_p": "p.Gly188Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624668.1",
"strand": false,
"transcript": "ENST00000954609.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 425,
"aa_ref": "G",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": 577,
"cds_end": null,
"cds_length": 1278,
"cds_start": 547,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857884.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.547_548delGGinsTC",
"hgvs_p": "p.Gly183Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527943.1",
"strand": false,
"transcript": "ENST00000857884.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 410,
"aa_ref": "G",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1233,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916497.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.502_503delGGinsTC",
"hgvs_p": "p.Gly168Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586556.1",
"strand": false,
"transcript": "ENST00000916497.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 405,
"aa_ref": "G",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 571,
"cds_end": null,
"cds_length": 1218,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916499.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.487_488delGGinsTC",
"hgvs_p": "p.Gly163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586558.1",
"strand": false,
"transcript": "ENST00000916499.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 395,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1188,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857883.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.562_563delGGinsTC",
"hgvs_p": "p.Gly188Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527942.1",
"strand": false,
"transcript": "ENST00000857883.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 387,
"aa_ref": "G",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 522,
"cds_end": null,
"cds_length": 1164,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286220.2",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.433_434delGGinsTC",
"hgvs_p": "p.Gly145Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273149.1",
"strand": false,
"transcript": "NM_001286220.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 387,
"aa_ref": "G",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 532,
"cds_end": null,
"cds_length": 1164,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434819.2",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.433_434delGGinsTC",
"hgvs_p": "p.Gly145Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394100.2",
"strand": false,
"transcript": "ENST00000434819.2",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 385,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 645,
"cds_end": null,
"cds_length": 1158,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857881.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.562_563delGGinsTC",
"hgvs_p": "p.Gly188Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527940.1",
"strand": false,
"transcript": "ENST00000857881.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 379,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 663,
"cds_end": null,
"cds_length": 1140,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857878.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.562_563delGGinsTC",
"hgvs_p": "p.Gly188Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527937.1",
"strand": false,
"transcript": "ENST00000857878.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 592,
"cds_end": null,
"cds_length": 1035,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954612.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.562_563delGGinsTC",
"hgvs_p": "p.Gly188Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624671.1",
"strand": false,
"transcript": "ENST00000954612.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 274,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1970,
"cdna_start": 668,
"cds_end": null,
"cds_length": 825,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857877.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.562_563delGGinsTC",
"hgvs_p": "p.Gly188Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527936.1",
"strand": false,
"transcript": "ENST00000857877.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 376,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": null,
"cds_end": null,
"cds_length": 1131,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857882.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.436-262_436-261delGGinsTC",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527941.1",
"strand": false,
"transcript": "ENST00000857882.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 341,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": null,
"cds_end": null,
"cds_length": 1026,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954611.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.435+634_435+635delGGinsTC",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624670.1",
"strand": false,
"transcript": "ENST00000954611.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 321,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2094,
"cdna_start": null,
"cds_end": null,
"cds_length": 966,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916498.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.376-1749_376-1748delGGinsTC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586557.1",
"strand": false,
"transcript": "ENST00000916498.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 120,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": null,
"cds_end": null,
"cds_length": 363,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857879.1",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "c.90-8995_90-8994delGGinsTC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527938.1",
"strand": false,
"transcript": "ENST00000857879.1",
"transcript_support_level": null
},
{
"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": 981,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000496461.5",
"gene_hgnc_id": 4433,
"gene_symbol": "GOT2",
"hgvs_c": "n.636_637delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000496461.5",
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},
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}