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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: 6-33447882-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33447882&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SYNGAP1",
"hgnc_id": 11497,
"hgvs_c": "c.3834C>T",
"hgvs_p": "p.Pro1278Pro",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_006772.3",
"verdict": "Benign"
},
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SYNGAP1-AS1",
"hgnc_id": 53831,
"hgvs_c": "n.137-1084G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -3,
"transcript": "NR_174954.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS2",
"acmg_score": -10,
"allele_count_reference_population": 26,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1827,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "6",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " autosomal dominant 5,Inborn genetic diseases,Intellectual disability,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010762184858322144,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "R",
"aa_start": 1283,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5827,
"cdna_start": 3847,
"cds_end": null,
"cds_length": 3858,
"cds_start": 3847,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000418600.7",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3847C>T",
"hgvs_p": "p.Arg1283Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403636.3",
"strand": true,
"transcript": "ENST00000418600.7",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "P",
"aa_start": 1278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6015,
"cdna_start": 4034,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3834,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_006772.3",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3834C>T",
"hgvs_p": "p.Pro1278Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000646630.1",
"protein_coding": true,
"protein_id": "NP_006763.2",
"strand": true,
"transcript": "NM_006772.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "P",
"aa_start": 1278,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6015,
"cdna_start": 4034,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3834,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000646630.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3834C>T",
"hgvs_p": "p.Pro1278Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006772.3",
"protein_coding": true,
"protein_id": "ENSP00000496007.1",
"strand": true,
"transcript": "ENST00000646630.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1308,
"aa_ref": "P",
"aa_start": 1278,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 3898,
"cds_end": null,
"cds_length": 3927,
"cds_start": 3834,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000644458.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3834C>T",
"hgvs_p": "p.Pro1278Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495541.1",
"strand": true,
"transcript": "ENST00000644458.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "P",
"aa_start": 1262,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": 3796,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3786,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000449372.7",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3786C>T",
"hgvs_p": "p.Pro1262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416519.4",
"strand": true,
"transcript": "ENST00000449372.7",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "P",
"aa_start": 1219,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 3657,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3657,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000645250.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3657C>T",
"hgvs_p": "p.Pro1219Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494861.1",
"strand": true,
"transcript": "ENST00000645250.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "R",
"aa_start": 1283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6903,
"cdna_start": 4047,
"cds_end": null,
"cds_length": 3858,
"cds_start": 3847,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419461.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3847C>T",
"hgvs_p": "p.Arg1283Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275417.1",
"strand": true,
"transcript": "XM_047419461.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "R",
"aa_start": 1283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6028,
"cdna_start": 4047,
"cds_end": null,
"cds_length": 3858,
"cds_start": 3847,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419463.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3847C>T",
"hgvs_p": "p.Arg1283Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275419.1",
"strand": true,
"transcript": "XM_047419463.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "R",
"aa_start": 1283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6031,
"cdna_start": 4047,
"cds_end": null,
"cds_length": 3858,
"cds_start": 3847,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419464.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3847C>T",
"hgvs_p": "p.Arg1283Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275420.1",
"strand": true,
"transcript": "XM_047419464.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "P",
"aa_start": 1278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6010,
"cdna_start": 4029,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3834,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000629380.3",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3834C>T",
"hgvs_p": "p.Pro1278Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486463.1",
"strand": true,
"transcript": "ENST00000629380.3",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4264,
"cdna_start": 3834,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3834,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000628646.2",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3834C>T",
"hgvs_p": "p.Pro1278Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486431.1",
"strand": true,
"transcript": "ENST00000628646.2",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "P",
"aa_start": 1262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5966,
"cdna_start": 3986,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3786,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001130066.2",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3786C>T",
"hgvs_p": "p.Pro1262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123538.1",
"strand": true,
"transcript": "NM_001130066.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1284,
"aa_ref": "P",
"aa_start": 1219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4339,
"cdna_start": 3837,
"cds_end": null,
"cds_length": 3855,
"cds_start": 3657,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000428982.4",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3657C>T",
"hgvs_p": "p.Pro1219Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412475.2",
"strand": true,
"transcript": "ENST00000428982.4",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1257,
"aa_ref": "P",
"aa_start": 1192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5604,
"cdna_start": 3623,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3576,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000682587.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3576C>T",
"hgvs_p": "p.Pro1192Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507403.1",
"strand": true,
"transcript": "ENST00000682587.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "P",
"aa_start": 1278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": 4034,
"cds_end": null,
"cds_length": 4035,
"cds_start": 3834,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419450.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3834C>T",
"hgvs_p": "p.Pro1278Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275406.1",
"strand": true,
"transcript": "XM_047419450.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "P",
"aa_start": 1276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6012,
"cdna_start": 4028,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3828,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419451.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3828C>T",
"hgvs_p": "p.Pro1276Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275407.1",
"strand": true,
"transcript": "XM_047419451.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "P",
"aa_start": 1264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5976,
"cdna_start": 3992,
"cds_end": null,
"cds_length": 3993,
"cds_start": 3792,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047419452.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3792C>T",
"hgvs_p": "p.Pro1264Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275408.1",
"strand": true,
"transcript": "XM_047419452.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1329,
"aa_ref": "P",
"aa_start": 1264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5973,
"cdna_start": 3992,
"cds_end": null,
"cds_length": 3990,
"cds_start": 3792,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047419453.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3792C>T",
"hgvs_p": "p.Pro1264Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275409.1",
"strand": true,
"transcript": "XM_047419453.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "P",
"aa_start": 1262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5970,
"cdna_start": 3986,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3786,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047419454.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3786C>T",
"hgvs_p": "p.Pro1262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275410.1",
"strand": true,
"transcript": "XM_047419454.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "P",
"aa_start": 1250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5967,
"cdna_start": 3983,
"cds_end": null,
"cds_length": 3951,
"cds_start": 3750,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419455.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3750C>T",
"hgvs_p": "p.Pro1250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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