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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: 6-33432787-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33432787&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33432787,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000646630.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "NM_006772.3",
"protein_id": "NP_006763.2",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1343,
"cds_start": 490,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": "ENST00000646630.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "ENST00000646630.1",
"protein_id": "ENSP00000496007.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1343,
"cds_start": 490,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": "NM_006772.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "ENST00000644458.1",
"protein_id": "ENSP00000495541.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1308,
"cds_start": 490,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "ENST00000449372.7",
"protein_id": "ENSP00000416519.4",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 1292,
"cds_start": 490,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "ENST00000418600.7",
"protein_id": "ENSP00000403636.3",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 1285,
"cds_start": 490,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Arg105*",
"transcript": "ENST00000645250.1",
"protein_id": "ENSP00000494861.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1249,
"cds_start": 313,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "ENST00000629380.3",
"protein_id": "ENSP00000486463.1",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 1343,
"cds_start": 490,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "ENST00000628646.2",
"protein_id": "ENSP00000486431.1",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 1299,
"cds_start": 490,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 4264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "NM_001130066.2",
"protein_id": "NP_001123538.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1292,
"cds_start": 490,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Arg105*",
"transcript": "ENST00000428982.4",
"protein_id": "ENSP00000412475.2",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 1284,
"cds_start": 313,
"cds_end": null,
"cds_length": 3855,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78*",
"transcript": "ENST00000682587.1",
"protein_id": "ENSP00000507403.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1257,
"cds_start": 232,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 5604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "XM_047419450.1",
"protein_id": "XP_047275406.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1344,
"cds_start": 490,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 6018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "XM_047419451.1",
"protein_id": "XP_047275407.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1342,
"cds_start": 490,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "XM_047419452.1",
"protein_id": "XP_047275408.1",
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"aa_start": 164,
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"cds_start": 490,
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"cdna_start": 690,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "XM_047419453.1",
"protein_id": "XP_047275409.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1329,
"cds_start": 490,
"cds_end": null,
"cds_length": 3990,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "XM_047419454.1",
"protein_id": "XP_047275410.1",
"transcript_support_level": null,
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"cds_start": 490,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Arg136*",
"transcript": "XM_047419455.1",
"protein_id": "XP_047275411.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1316,
"cds_start": 406,
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"cds_length": 3951,
"cdna_start": 639,
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"cdna_length": 5967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Arg136*",
"transcript": "XM_047419456.1",
"protein_id": "XP_047275412.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1316,
"cds_start": 406,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 7647,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "XM_047419457.1",
"protein_id": "XP_047275413.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1304,
"cds_start": 490,
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"cdna_start": 690,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "XM_047419458.1",
"protein_id": "XP_047275414.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1299,
"cds_start": 490,
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"cdna_start": 690,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "XM_047419460.1",
"protein_id": "XP_047275416.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1297,
"cds_start": 490,
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"cdna_start": 690,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "XM_047419465.1",
"protein_id": "XP_047275421.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1292,
"cds_start": 490,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"transcript": "XM_047419461.1",
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],
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"dbsnp": "rs1057518352",
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"computational_score_selected": 0.5199999809265137,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.777,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"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": [
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000646630.1",
"gene_symbol": "SYNGAP1",
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"effects": [
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],
"inheritance_mode": "AD,Unknown",
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],
"clinvar_disease": " autosomal dominant 5,Complex neurodevelopmental disorder,Intellectual disability,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7 LP:1",
"phenotype_combined": "not provided|Intellectual disability, autosomal dominant 5|Complex neurodevelopmental disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}