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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: 6-33443781-ACAGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33443781&ref=ACAGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33443781,
"ref": "ACAGT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_006772.3",
"consequences": [
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3233_3236delTCAG",
"hgvs_p": "p.Val1078fs",
"transcript": "NM_006772.3",
"protein_id": "NP_006763.2",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3233,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000646630.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006772.3"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3233_3236delTCAG",
"hgvs_p": "p.Val1078fs",
"transcript": "ENST00000646630.1",
"protein_id": "ENSP00000496007.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3233,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006772.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646630.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3233_3236delTCAG",
"hgvs_p": "p.Val1078fs",
"transcript": "ENST00000644458.1",
"protein_id": "ENSP00000495541.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3233,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644458.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3191_3194delTCAG",
"hgvs_p": "p.Val1064fs",
"transcript": "ENST00000449372.7",
"protein_id": "ENSP00000416519.4",
"transcript_support_level": 5,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449372.7"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3233_3236delTCAG",
"hgvs_p": "p.Val1078fs",
"transcript": "ENST00000418600.7",
"protein_id": "ENSP00000403636.3",
"transcript_support_level": 5,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3233,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418600.7"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3056_3059delTCAG",
"hgvs_p": "p.Val1019fs",
"transcript": "ENST00000645250.1",
"protein_id": "ENSP00000494861.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3056,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645250.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3233_3236delTCAG",
"hgvs_p": "p.Val1078fs",
"transcript": "ENST00000629380.3",
"protein_id": "ENSP00000486463.1",
"transcript_support_level": 2,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3233,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629380.3"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3233_3236delTCAG",
"hgvs_p": "p.Val1078fs",
"transcript": "ENST00000628646.2",
"protein_id": "ENSP00000486431.1",
"transcript_support_level": 5,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3233,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628646.2"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3191_3194delTCAG",
"hgvs_p": "p.Val1064fs",
"transcript": "NM_001130066.2",
"protein_id": "NP_001123538.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130066.2"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3056_3059delTCAG",
"hgvs_p": "p.Val1019fs",
"transcript": "ENST00000428982.4",
"protein_id": "ENSP00000412475.2",
"transcript_support_level": 5,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3056,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428982.4"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.2975_2978delTCAG",
"hgvs_p": "p.Val992fs",
"transcript": "ENST00000682587.1",
"protein_id": "ENSP00000507403.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2975,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682587.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3233_3236delTCAG",
"hgvs_p": "p.Val1078fs",
"transcript": "XM_047419450.1",
"protein_id": "XP_047275406.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3233,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419450.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3233_3236delTCAG",
"hgvs_p": "p.Val1078fs",
"transcript": "XM_047419451.1",
"protein_id": "XP_047275407.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3233,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419451.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3191_3194delTCAG",
"hgvs_p": "p.Val1064fs",
"transcript": "XM_047419452.1",
"protein_id": "XP_047275408.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419452.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3191_3194delTCAG",
"hgvs_p": "p.Val1064fs",
"transcript": "XM_047419453.1",
"protein_id": "XP_047275409.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419453.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3191_3194delTCAG",
"hgvs_p": "p.Val1064fs",
"transcript": "XM_047419454.1",
"protein_id": "XP_047275410.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419454.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3149_3152delTCAG",
"hgvs_p": "p.Val1050fs",
"transcript": "XM_047419455.1",
"protein_id": "XP_047275411.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3149,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419455.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3149_3152delTCAG",
"hgvs_p": "p.Val1050fs",
"transcript": "XM_047419456.1",
"protein_id": "XP_047275412.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3149,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419456.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3113_3116delTCAG",
"hgvs_p": "p.Val1038fs",
"transcript": "XM_047419457.1",
"protein_id": "XP_047275413.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3113,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419457.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3233_3236delTCAG",
"hgvs_p": "p.Val1078fs",
"transcript": "XM_047419458.1",
"protein_id": "XP_047275414.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3233,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419458.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3233_3236delTCAG",
"hgvs_p": "p.Val1078fs",
"transcript": "XM_047419460.1",
"protein_id": "XP_047275416.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3233,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419460.1"
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.3191_3194delTCAG",
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"transcript": "XM_047419465.1",
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],
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"dbsnp": "rs1554122341",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.082,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_006772.3",
"gene_symbol": "SYNGAP1",
"hgnc_id": 11497,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.3233_3236delTCAG",
"hgvs_p": "p.Val1078fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NR_174954.1",
"gene_symbol": "SYNGAP1-AS1",
"hgnc_id": 53831,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.329+2821_329+2824delACTG",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant 5,Inborn genetic diseases,Intellectual disability,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Intellectual disability, autosomal dominant 5|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}