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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: 11-61366132-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61366132&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TMEM138",
"hgnc_id": 26944,
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001410999.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 577,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Joubert syndrome 16,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 162,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1475,
"cdna_start": 402,
"cds_end": null,
"cds_length": 489,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_016464.5",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000278826.11",
"protein_coding": true,
"protein_id": "NP_057548.1",
"strand": true,
"transcript": "NM_016464.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 162,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1475,
"cdna_start": 402,
"cds_end": null,
"cds_length": 489,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000278826.11",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016464.5",
"protein_coding": true,
"protein_id": "ENSP00000278826.5",
"strand": true,
"transcript": "ENST00000278826.11",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 105,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3875,
"cdna_start": 812,
"cds_end": null,
"cds_length": 318,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000542946.2",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445792.1",
"strand": true,
"transcript": "ENST00000542946.2",
"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": 740,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000534963.5",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "n.315C>T",
"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": "ENST00000534963.5",
"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": 1506,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000543594.6",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "n.*427C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509354.1",
"strand": true,
"transcript": "ENST00000543594.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1506,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000543594.6",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "n.*427C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509354.1",
"strand": true,
"transcript": "ENST00000543594.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 64,
"aa_ref": "T",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 285,
"cds_end": null,
"cds_length": 195,
"cds_start": 158,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000507563.7",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.158C>T",
"hgvs_p": "p.Thr53Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510363.1",
"strand": true,
"transcript": "ENST00000507563.7",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 64,
"aa_ref": "T",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 273,
"cds_end": null,
"cds_length": 195,
"cds_start": 158,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000689882.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.158C>T",
"hgvs_p": "p.Thr53Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509351.1",
"strand": true,
"transcript": "ENST00000689882.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 193,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1664,
"cdna_start": 623,
"cds_end": null,
"cds_length": 582,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000692667.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510180.1",
"strand": true,
"transcript": "ENST00000692667.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 187,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 623,
"cds_end": null,
"cds_length": 564,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000685597.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509403.1",
"strand": true,
"transcript": "ENST00000685597.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 177,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": 402,
"cds_end": null,
"cds_length": 534,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001410999.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397928.1",
"strand": true,
"transcript": "NM_001410999.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 177,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1932,
"cdna_start": 623,
"cds_end": null,
"cds_length": 534,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000692785.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509310.1",
"strand": true,
"transcript": "ENST00000692785.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 164,
"aa_ref": "N",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": 411,
"cds_end": null,
"cds_length": 495,
"cds_start": 225,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886939.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Asn75Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556998.1",
"strand": true,
"transcript": "ENST00000886939.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 162,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2827,
"cdna_start": 1814,
"cds_end": null,
"cds_length": 489,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000692219.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510149.1",
"strand": true,
"transcript": "ENST00000692219.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 162,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": 571,
"cds_end": null,
"cds_length": 489,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886940.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556999.1",
"strand": true,
"transcript": "ENST00000886940.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 162,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 788,
"cds_end": null,
"cds_length": 489,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886941.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557000.1",
"strand": true,
"transcript": "ENST00000886941.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 162,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1528,
"cdna_start": 753,
"cds_end": null,
"cds_length": 489,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000928756.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598815.1",
"strand": true,
"transcript": "ENST00000928756.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 162,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 489,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000928757.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598816.1",
"strand": true,
"transcript": "ENST00000928757.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 162,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1278,
"cdna_start": 503,
"cds_end": null,
"cds_length": 489,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000928758.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598817.1",
"strand": true,
"transcript": "ENST00000928758.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 161,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1472,
"cdna_start": 402,
"cds_end": null,
"cds_length": 486,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001441180.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428109.1",
"strand": true,
"transcript": "NM_001441180.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 134,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 402,
"cds_end": null,
"cds_length": 405,
"cds_start": 216,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001441181.1",
"gene_hgnc_id": 26944,
"gene_symbol": "TMEM138",
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asn72Asn",
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