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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: 7-66092795-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=66092795&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ASL",
"hgnc_id": 746,
"hgvs_c": "c.1278C>T",
"hgvs_p": "p.Cys426Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_000048.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000249319",
"hgnc_id": null,
"hgvs_c": "c.563+132C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000450043.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_score": -17,
"allele_count_reference_population": 216,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "7",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Argininosuccinate lyase deficiency",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6899999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 464,
"aa_ref": "C",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_000048.4",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1278C>T",
"hgvs_p": "p.Cys426Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304874.14",
"protein_coding": true,
"protein_id": "NP_000039.2",
"strand": true,
"transcript": "NM_000048.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 464,
"aa_ref": "C",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000304874.14",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1278C>T",
"hgvs_p": "p.Cys426Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000048.4",
"protein_coding": true,
"protein_id": "ENSP00000307188.9",
"strand": true,
"transcript": "ENST00000304874.14",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 464,
"aa_ref": "C",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000395332.8",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1278C>T",
"hgvs_p": "p.Cys426Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378741.3",
"strand": true,
"transcript": "ENST00000395332.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 306,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 922,
"cdna_start": null,
"cds_end": null,
"cds_length": 922,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000450043.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000249319",
"hgvs_c": "c.563+132C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396527.2",
"strand": true,
"transcript": "ENST00000450043.2",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 495,
"aa_ref": "C",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1371,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000906815.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1371C>T",
"hgvs_p": "p.Cys457Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576874.1",
"strand": true,
"transcript": "ENST00000906815.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 474,
"aa_ref": "C",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1308,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906826.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1308C>T",
"hgvs_p": "p.Cys436Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576885.1",
"strand": true,
"transcript": "ENST00000906826.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 474,
"aa_ref": "C",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1308,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000906828.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1308C>T",
"hgvs_p": "p.Cys436Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576887.1",
"strand": true,
"transcript": "ENST00000906828.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 473,
"aa_ref": "C",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1305,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000952733.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1305C>T",
"hgvs_p": "p.Cys435Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622792.1",
"strand": true,
"transcript": "ENST00000952733.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 464,
"aa_ref": "C",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001024943.2",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1278C>T",
"hgvs_p": "p.Cys426Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020114.1",
"strand": true,
"transcript": "NM_001024943.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 464,
"aa_ref": "C",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906801.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1278C>T",
"hgvs_p": "p.Cys426Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576860.1",
"strand": true,
"transcript": "ENST00000906801.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 463,
"aa_ref": "C",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1275,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906807.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1275C>T",
"hgvs_p": "p.Cys425Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576866.1",
"strand": true,
"transcript": "ENST00000906807.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 459,
"aa_ref": "C",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1263,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906823.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1263C>T",
"hgvs_p": "p.Cys421Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576882.1",
"strand": true,
"transcript": "ENST00000906823.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 449,
"aa_ref": "C",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1233,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906824.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1233C>T",
"hgvs_p": "p.Cys411Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576883.1",
"strand": true,
"transcript": "ENST00000906824.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 445,
"aa_ref": "C",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1221,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952732.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1221C>T",
"hgvs_p": "p.Cys407Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622791.1",
"strand": true,
"transcript": "ENST00000952732.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 444,
"aa_ref": "C",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1218,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001024944.2",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1218C>T",
"hgvs_p": "p.Cys406Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020115.1",
"strand": true,
"transcript": "NM_001024944.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 444,
"aa_ref": "C",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1218,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000395331.4",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1218C>T",
"hgvs_p": "p.Cys406Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378740.3",
"strand": true,
"transcript": "ENST00000395331.4",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 444,
"aa_ref": "C",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1678,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1218,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000906808.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1218C>T",
"hgvs_p": "p.Cys406Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576867.1",
"strand": true,
"transcript": "ENST00000906808.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 438,
"aa_ref": "C",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1200,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001024946.2",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1200C>T",
"hgvs_p": "p.Cys400Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020117.1",
"strand": true,
"transcript": "NM_001024946.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 438,
"aa_ref": "C",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1200,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000380839.9",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1200C>T",
"hgvs_p": "p.Cys400Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370219.4",
"strand": true,
"transcript": "ENST00000380839.9",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 438,
"aa_ref": "C",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1436,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1200,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000673518.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.1200C>T",
"hgvs_p": "p.Cys400Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499889.1",
"strand": true,
"transcript": "ENST00000673518.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 438,
"aa_ref": "C",
"aa_start": 400,
"biotype": "protein_coding",
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"effect": "synonymous_variant",
"frequency_reference_population": 0.00013383779,
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"gnomad_exomes_ac": 190,
"gnomad_exomes_af": 0.000129994,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 26,
"gnomad_genomes_af": 0.000170734,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "Argininosuccinate lyase deficiency",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.9,
"pos": 66092795,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000048.4"
}
]
}