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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: 6-33440915-AACCCTC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33440915&ref=AACCCTC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33440915,
"ref": "AACCCTC",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_006772.3",
"consequences": [
{
"aa_ref": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "NM_006772.3",
"protein_id": "NP_006763.2",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1343,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "ENST00000646630.1",
"protein_id": "ENSP00000496007.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1343,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "ENST00000644458.1",
"protein_id": "ENSP00000495541.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1308,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "ENST00000449372.7",
"protein_id": "ENSP00000416519.4",
"transcript_support_level": 5,
"aa_start": 624,
"aa_end": null,
"aa_length": 1292,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "ENST00000418600.7",
"protein_id": "ENSP00000403636.3",
"transcript_support_level": 5,
"aa_start": 624,
"aa_end": null,
"aa_length": 1285,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1694_1699delCCCTCA",
"hgvs_p": "p.Thr565_Leu566del",
"transcript": "ENST00000645250.1",
"protein_id": "ENSP00000494861.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 1249,
"cds_start": 1694,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "ENST00000629380.3",
"protein_id": "ENSP00000486463.1",
"transcript_support_level": 2,
"aa_start": 624,
"aa_end": null,
"aa_length": 1343,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "ENST00000628646.2",
"protein_id": "ENSP00000486431.1",
"transcript_support_level": 5,
"aa_start": 624,
"aa_end": null,
"aa_length": 1299,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "NM_001130066.2",
"protein_id": "NP_001123538.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1292,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1694_1699delCCCTCA",
"hgvs_p": "p.Thr565_Leu566del",
"transcript": "ENST00000428982.4",
"protein_id": "ENSP00000412475.2",
"transcript_support_level": 5,
"aa_start": 565,
"aa_end": null,
"aa_length": 1284,
"cds_start": 1694,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1613_1618delCCCTCA",
"hgvs_p": "p.Thr538_Leu539del",
"transcript": "ENST00000682587.1",
"protein_id": "ENSP00000507403.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 1257,
"cds_start": 1613,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "XM_047419450.1",
"protein_id": "XP_047275406.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1344,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "XM_047419451.1",
"protein_id": "XP_047275407.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1342,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "XM_047419452.1",
"protein_id": "XP_047275408.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1330,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "XM_047419453.1",
"protein_id": "XP_047275409.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1329,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "XM_047419454.1",
"protein_id": "XP_047275410.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1328,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1787_1792delCCCTCA",
"hgvs_p": "p.Thr596_Leu597del",
"transcript": "XM_047419455.1",
"protein_id": "XP_047275411.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 1316,
"cds_start": 1787,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1787_1792delCCCTCA",
"hgvs_p": "p.Thr596_Leu597del",
"transcript": "XM_047419456.1",
"protein_id": "XP_047275412.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 1316,
"cds_start": 1787,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "XM_047419457.1",
"protein_id": "XP_047275413.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1304,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "XM_047419458.1",
"protein_id": "XP_047275414.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1299,
"cds_start": 1871,
"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": "TLI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGAP1",
"gene_hgnc_id": 11497,
"hgvs_c": "c.1871_1876delCCCTCA",
"hgvs_p": "p.Thr624_Leu625del",
"transcript": "XM_047419460.1",
"protein_id": "XP_047275416.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 1297,
"cds_start": 1871,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
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],
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"hom_count_reference_population": 0,
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"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
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"phylop100way_score": 9.321,
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006772.3",
"gene_symbol": "SYNGAP1",
"hgnc_id": 11497,
"effects": [
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],
"inheritance_mode": "AD,Unknown",
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},
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NR_174954.1",
"gene_symbol": "SYNGAP1-AS1",
"hgnc_id": 53831,
"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}