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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: 9-37763734-CC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37763734&ref=CC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TRMT10B",
"hgnc_id": 26454,
"hgvs_c": "c.401_402delCCinsAT",
"hgvs_p": "p.Thr134Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_144964.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000255872",
"hgnc_id": null,
"hgvs_c": "n.*910+20179_*910+20180delGGinsAT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000540557.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "EXOSC3",
"hgnc_id": 17944,
"hgvs_c": "c.*212_*213delGGinsAT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000858037.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"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": "N",
"aa_end": null,
"aa_length": 316,
"aa_ref": "T",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 478,
"cds_end": null,
"cds_length": 951,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_144964.4",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.401_402delCCinsAT",
"hgvs_p": "p.Thr134Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000297994.4",
"protein_coding": true,
"protein_id": "NP_659401.2",
"strand": true,
"transcript": "NM_144964.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 316,
"aa_ref": "T",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 478,
"cds_end": null,
"cds_length": 951,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000297994.4",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.401_402delCCinsAT",
"hgvs_p": "p.Thr134Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144964.4",
"protein_coding": true,
"protein_id": "ENSP00000297994.3",
"strand": true,
"transcript": "ENST00000297994.4",
"transcript_support_level": 1
},
{
"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": 1443,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000488673.6",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "n.401_402delCCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437395.1",
"strand": true,
"transcript": "ENST00000488673.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540557.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255872",
"hgvs_c": "n.*910+20179_*910+20180delGGinsAT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457548.1",
"strand": false,
"transcript": "ENST00000540557.1",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 316,
"aa_ref": "T",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 583,
"cds_end": null,
"cds_length": 951,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913190.1",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.401_402delCCinsAT",
"hgvs_p": "p.Thr134Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583249.1",
"strand": true,
"transcript": "ENST00000913190.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 315,
"aa_ref": "T",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1374,
"cdna_start": 506,
"cds_end": null,
"cds_length": 948,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913193.1",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.401_402delCCinsAT",
"hgvs_p": "p.Thr134Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583252.1",
"strand": true,
"transcript": "ENST00000913193.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 307,
"aa_ref": "T",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": 509,
"cds_end": null,
"cds_length": 924,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857926.1",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.401_402delCCinsAT",
"hgvs_p": "p.Thr134Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527985.1",
"strand": true,
"transcript": "ENST00000857926.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 265,
"aa_ref": "T",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": 480,
"cds_end": null,
"cds_length": 798,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913192.1",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.401_402delCCinsAT",
"hgvs_p": "p.Thr134Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583251.1",
"strand": true,
"transcript": "ENST00000913192.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 256,
"aa_ref": "T",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 478,
"cds_end": null,
"cds_length": 771,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286950.2",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.401_402delCCinsAT",
"hgvs_p": "p.Thr134Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273879.1",
"strand": true,
"transcript": "NM_001286950.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 256,
"aa_ref": "T",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": 480,
"cds_end": null,
"cds_length": 771,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000537911.5",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.401_402delCCinsAT",
"hgvs_p": "p.Thr134Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444997.1",
"strand": true,
"transcript": "ENST00000537911.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 221,
"aa_ref": "T",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 369,
"cds_end": null,
"cds_length": 666,
"cds_start": 116,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286951.2",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.116_117delCCinsAT",
"hgvs_p": "p.Thr39Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273880.1",
"strand": true,
"transcript": "NM_001286951.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 221,
"aa_ref": "T",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": 357,
"cds_end": null,
"cds_length": 666,
"cds_start": 116,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377754.6",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.116_117delCCinsAT",
"hgvs_p": "p.Thr39Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366983.2",
"strand": true,
"transcript": "ENST00000377754.6",
"transcript_support_level": 2
},
{
"aa_alt": "ES",
"aa_end": null,
"aa_length": 196,
"aa_ref": "DP",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 478,
"cds_end": null,
"cds_length": 591,
"cds_start": 225,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286954.2",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.225_226delCCinsAT",
"hgvs_p": "p.AspPro75GluSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273883.1",
"strand": true,
"transcript": "NM_001286954.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 329,
"aa_ref": "T",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2638,
"cdna_start": 823,
"cds_end": null,
"cds_length": 990,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517735.4",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.440_441delCCinsAT",
"hgvs_p": "p.Thr147Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516037.1",
"strand": true,
"transcript": "XM_011517735.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 320,
"aa_ref": "T",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": 823,
"cds_end": null,
"cds_length": 963,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517736.4",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.440_441delCCinsAT",
"hgvs_p": "p.Thr147Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516038.1",
"strand": true,
"transcript": "XM_011517736.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 307,
"aa_ref": "T",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 478,
"cds_end": null,
"cds_length": 924,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024447426.2",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.401_402delCCinsAT",
"hgvs_p": "p.Thr134Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303194.1",
"strand": true,
"transcript": "XM_024447426.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 295,
"aa_ref": "T",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1546,
"cdna_start": 823,
"cds_end": null,
"cds_length": 888,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047422833.1",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.440_441delCCinsAT",
"hgvs_p": "p.Thr147Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278789.1",
"strand": true,
"transcript": "XM_047422833.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 285,
"aa_ref": "T",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6519,
"cdna_start": 823,
"cds_end": null,
"cds_length": 858,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017014313.3",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.440_441delCCinsAT",
"hgvs_p": "p.Thr147Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869802.1",
"strand": true,
"transcript": "XM_017014313.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 187,
"aa_ref": "T",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 973,
"cdna_start": 823,
"cds_end": null,
"cds_length": 564,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517742.2",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.440_441delCCinsAT",
"hgvs_p": "p.Thr147Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516044.1",
"strand": true,
"transcript": "XM_011517742.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 184,
"aa_ref": "T",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 555,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047422834.1",
"gene_hgnc_id": 26454,
"gene_symbol": "TRMT10B",
"hgvs_c": "c.5_6delCCinsAT",
"hgvs_p": "p.Thr2Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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