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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: 6-33451832-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33451832&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYNGAP1",
"hgnc_id": 11497,
"hgvs_c": "c.3958C>T",
"hgvs_p": "p.Pro1320Ser",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006772.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SYNGAP1-AS1",
"hgnc_id": 53831,
"hgvs_c": "n.136+2438G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NR_174954.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0725,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " autosomal dominant 5,Intellectual disability",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1772746443748474,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "P",
"aa_start": 1320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6015,
"cdna_start": 4158,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3958,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_006772.3",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3958C>T",
"hgvs_p": "p.Pro1320Ser",
"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": "S",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "P",
"aa_start": 1320,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6015,
"cdna_start": 4158,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3958,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000646630.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3958C>T",
"hgvs_p": "p.Pro1320Ser",
"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": null,
"aa_end": null,
"aa_length": 1308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": null,
"cds_end": null,
"cds_length": 3927,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000644458.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.*30C>T",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 1292,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": null,
"cds_end": null,
"cds_length": 3879,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000449372.7",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.*30C>T",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 1285,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5827,
"cdna_start": null,
"cds_end": null,
"cds_length": 3858,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000418600.7",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.*112C>T",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 1249,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": null,
"cds_end": null,
"cds_length": 3750,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000645250.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.*30C>T",
"hgvs_p": null,
"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": "S",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "P",
"aa_start": 1320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6010,
"cdna_start": 4153,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3958,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000629380.3",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3958C>T",
"hgvs_p": "p.Pro1320Ser",
"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": "S",
"aa_end": null,
"aa_length": 1284,
"aa_ref": "P",
"aa_start": 1261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4339,
"cdna_start": 3961,
"cds_end": null,
"cds_length": 3855,
"cds_start": 3781,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000428982.4",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Pro1261Ser",
"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": "S",
"aa_end": null,
"aa_length": 1257,
"aa_ref": "P",
"aa_start": 1234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5604,
"cdna_start": 3747,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3700,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000682587.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3700C>T",
"hgvs_p": "p.Pro1234Ser",
"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": "S",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "P",
"aa_start": 1321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": 4161,
"cds_end": null,
"cds_length": 4035,
"cds_start": 3961,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047419450.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3961C>T",
"hgvs_p": "p.Pro1321Ser",
"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": "S",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "P",
"aa_start": 1319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6012,
"cdna_start": 4155,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3955,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047419451.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3955C>T",
"hgvs_p": "p.Pro1319Ser",
"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": "S",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "P",
"aa_start": 1307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5976,
"cdna_start": 4119,
"cds_end": null,
"cds_length": 3993,
"cds_start": 3919,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419452.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3919C>T",
"hgvs_p": "p.Pro1307Ser",
"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": "S",
"aa_end": null,
"aa_length": 1329,
"aa_ref": "P",
"aa_start": 1306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5973,
"cdna_start": 4116,
"cds_end": null,
"cds_length": 3990,
"cds_start": 3916,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419453.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3916C>T",
"hgvs_p": "p.Pro1306Ser",
"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": "S",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "P",
"aa_start": 1305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5970,
"cdna_start": 4113,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3913,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047419454.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3913C>T",
"hgvs_p": "p.Pro1305Ser",
"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": "S",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "P",
"aa_start": 1293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5967,
"cdna_start": 4110,
"cds_end": null,
"cds_length": 3951,
"cds_start": 3877,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047419455.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3877C>T",
"hgvs_p": "p.Pro1293Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275411.1",
"strand": true,
"transcript": "XM_047419455.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "P",
"aa_start": 1293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7647,
"cdna_start": 5790,
"cds_end": null,
"cds_length": 3951,
"cds_start": 3877,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047419456.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3877C>T",
"hgvs_p": "p.Pro1293Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275412.1",
"strand": true,
"transcript": "XM_047419456.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1304,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5898,
"cdna_start": 4041,
"cds_end": null,
"cds_length": 3915,
"cds_start": 3841,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047419457.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3841C>T",
"hgvs_p": "p.Pro1281Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275413.1",
"strand": true,
"transcript": "XM_047419457.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "P",
"aa_start": 1262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6326,
"cdna_start": 4469,
"cds_end": null,
"cds_length": 3858,
"cds_start": 3784,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047419462.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3784C>T",
"hgvs_p": "p.Pro1262Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275418.1",
"strand": true,
"transcript": "XM_047419462.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "P",
"aa_start": 1247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6281,
"cdna_start": 4424,
"cds_end": null,
"cds_length": 3813,
"cds_start": 3739,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047419466.1",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.3739C>T",
"hgvs_p": "p.Pro1247Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275422.1",
"strand": true,
"transcript": "XM_047419466.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1292,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5966,
"cdna_start": null,
"cds_end": null,
"cds_length": 3879,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001130066.2",
"gene_hgnc_id": 11497,
"gene_symbol": "SYNGAP1",
"hgvs_c": "c.*30C>T",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 1292,
"aa_ref": null,
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