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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: 22-38087201-GG-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38087201&ref=GG&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "BAIAP2L2",
"hgnc_id": 26203,
"hgvs_c": "c.1181_1182delCCinsGT",
"hgvs_p": "p.Thr394Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_025045.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"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": 529,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_025045.6",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1181_1182delCCinsGT",
"hgvs_p": "p.Thr394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381669.8",
"protein_coding": true,
"protein_id": "NP_079321.3",
"strand": false,
"transcript": "NM_025045.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381669.8",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1181_1182delCCinsGT",
"hgvs_p": "p.Thr394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025045.6",
"protein_coding": true,
"protein_id": "ENSP00000371085.3",
"strand": false,
"transcript": "ENST00000381669.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "T",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871592.1",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1199_1200delCCinsGT",
"hgvs_p": "p.Thr400Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541651.1",
"strand": false,
"transcript": "ENST00000871592.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2198,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871591.1",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1181_1182delCCinsGT",
"hgvs_p": "p.Thr394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541650.1",
"strand": false,
"transcript": "ENST00000871591.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "T",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2094,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871593.1",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1175_1176delCCinsGT",
"hgvs_p": "p.Thr392Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541652.1",
"strand": false,
"transcript": "ENST00000871593.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 520,
"aa_ref": "T",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1154,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947326.1",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1154_1155delCCinsGT",
"hgvs_p": "p.Thr385Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617385.1",
"strand": false,
"transcript": "ENST00000947326.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 404,
"aa_ref": "T",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 809,
"cds_end": null,
"cds_length": 1215,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000332536.10",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.806_807delCCinsGT",
"hgvs_p": "p.Thr269Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000328876.7",
"strand": false,
"transcript": "ENST00000332536.10",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 196,
"aa_ref": "T",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 751,
"cdna_start": 255,
"cds_end": null,
"cds_length": 591,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000428572.1",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.254_255delCCinsGT",
"hgvs_p": "p.Thr85Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410074.1",
"strand": false,
"transcript": "ENST00000428572.1",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005261751.5",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1181_1182delCCinsGT",
"hgvs_p": "p.Thr394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005261808.1",
"strand": false,
"transcript": "XM_005261751.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "T",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011530379.4",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1181_1182delCCinsGT",
"hgvs_p": "p.Thr394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528681.1",
"strand": false,
"transcript": "XM_011530379.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 511,
"aa_ref": "T",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1127,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011530380.4",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1127_1128delCCinsGT",
"hgvs_p": "p.Thr376Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528682.1",
"strand": false,
"transcript": "XM_011530380.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 510,
"aa_ref": "T",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2028,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011530381.3",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1124_1125delCCinsGT",
"hgvs_p": "p.Thr375Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528683.1",
"strand": false,
"transcript": "XM_011530381.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 510,
"aa_ref": "T",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011530382.3",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1124_1125delCCinsGT",
"hgvs_p": "p.Thr375Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528684.1",
"strand": false,
"transcript": "XM_011530382.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 505,
"aa_ref": "T",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1109,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011530383.3",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1109_1110delCCinsGT",
"hgvs_p": "p.Thr370Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528685.1",
"strand": false,
"transcript": "XM_011530383.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 499,
"aa_ref": "T",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1091,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011530384.3",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.1091_1092delCCinsGT",
"hgvs_p": "p.Thr364Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528686.1",
"strand": false,
"transcript": "XM_011530384.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 334,
"aa_ref": "T",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 1005,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011530386.3",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.596_597delCCinsGT",
"hgvs_p": "p.Thr199Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528688.1",
"strand": false,
"transcript": "XM_011530386.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 334,
"aa_ref": "T",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1535,
"cdna_start": 727,
"cds_end": null,
"cds_length": 1005,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011530387.4",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.596_597delCCinsGT",
"hgvs_p": "p.Thr199Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528689.1",
"strand": false,
"transcript": "XM_011530387.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 322,
"aa_ref": "T",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 710,
"cds_end": null,
"cds_length": 969,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011530388.3",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "c.560_561delCCinsGT",
"hgvs_p": "p.Thr187Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528690.1",
"strand": false,
"transcript": "XM_011530388.3",
"transcript_support_level": null
},
{
"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": 3441,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000679603.1",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "n.*2586_*2587delCCinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506595.1",
"strand": false,
"transcript": "ENST00000679603.1",
"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": 2024,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000681084.1",
"gene_hgnc_id": 26203,
"gene_symbol": "BAIAP2L2",
"hgvs_c": "n.293_294delCCinsGT",
"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": "ENST00000681084.1",
"transcript_support_level": null
},
{
"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": 3441,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
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