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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: 6-33443733-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33443733&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33443733,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000646630.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3181G>T",
"hgvs_p": "p.Gly1061Cys",
"transcript": "NM_006772.3",
"protein_id": "NP_006763.2",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 3381,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": "ENST00000646630.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3181G>T",
"hgvs_p": "p.Gly1061Cys",
"transcript": "ENST00000646630.1",
"protein_id": "ENSP00000496007.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 3381,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": "NM_006772.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3181G>T",
"hgvs_p": "p.Gly1061Cys",
"transcript": "ENST00000644458.1",
"protein_id": "ENSP00000495541.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 3245,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3139G>T",
"hgvs_p": "p.Gly1047Cys",
"transcript": "ENST00000449372.7",
"protein_id": "ENSP00000416519.4",
"transcript_support_level": 5,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3149,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3181G>T",
"hgvs_p": "p.Gly1061Cys",
"transcript": "ENST00000418600.7",
"protein_id": "ENSP00000403636.3",
"transcript_support_level": 5,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 3181,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3004G>T",
"hgvs_p": "p.Gly1002Cys",
"transcript": "ENST00000645250.1",
"protein_id": "ENSP00000494861.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3004,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3181G>T",
"hgvs_p": "p.Gly1061Cys",
"transcript": "ENST00000629380.3",
"protein_id": "ENSP00000486463.1",
"transcript_support_level": 2,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 3376,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3181G>T",
"hgvs_p": "p.Gly1061Cys",
"transcript": "ENST00000628646.2",
"protein_id": "ENSP00000486431.1",
"transcript_support_level": 5,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3181,
"cdna_end": null,
"cdna_length": 4264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3139G>T",
"hgvs_p": "p.Gly1047Cys",
"transcript": "NM_001130066.2",
"protein_id": "NP_001123538.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3004G>T",
"hgvs_p": "p.Gly1002Cys",
"transcript": "ENST00000428982.4",
"protein_id": "ENSP00000412475.2",
"transcript_support_level": 5,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3855,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2923G>T",
"hgvs_p": "p.Gly975Cys",
"transcript": "ENST00000682587.1",
"protein_id": "ENSP00000507403.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 5604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3181G>T",
"hgvs_p": "p.Gly1061Cys",
"transcript": "XM_047419450.1",
"protein_id": "XP_047275406.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 3381,
"cdna_end": null,
"cdna_length": 6018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3181G>T",
"hgvs_p": "p.Gly1061Cys",
"transcript": "XM_047419451.1",
"protein_id": "XP_047275407.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3381,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3139G>T",
"hgvs_p": "p.Gly1047Cys",
"transcript": "XM_047419452.1",
"protein_id": "XP_047275408.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3139,
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"cds_length": 3993,
"cdna_start": 3339,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3139G>T",
"hgvs_p": "p.Gly1047Cys",
"transcript": "XM_047419453.1",
"protein_id": "XP_047275409.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3990,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3139G>T",
"hgvs_p": "p.Gly1047Cys",
"transcript": "XM_047419454.1",
"protein_id": "XP_047275410.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
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"cds_start": 3139,
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"cdna_start": 3339,
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"cdna_length": 5970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3097G>T",
"hgvs_p": "p.Gly1033Cys",
"transcript": "XM_047419455.1",
"protein_id": "XP_047275411.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3097,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 3330,
"cdna_end": null,
"cdna_length": 5967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3097G>T",
"hgvs_p": "p.Gly1033Cys",
"transcript": "XM_047419456.1",
"protein_id": "XP_047275412.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3097,
"cds_end": null,
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"cdna_start": 5010,
"cdna_end": null,
"cdna_length": 7647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3061G>T",
"hgvs_p": "p.Gly1021Cys",
"transcript": "XM_047419457.1",
"protein_id": "XP_047275413.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3061,
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"cdna_start": 3261,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3181G>T",
"hgvs_p": "p.Gly1061Cys",
"transcript": "XM_047419458.1",
"protein_id": "XP_047275414.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3181,
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"cdna_start": 3381,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3181G>T",
"hgvs_p": "p.Gly1061Cys",
"transcript": "XM_047419460.1",
"protein_id": "XP_047275416.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 3381,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3139G>T",
"hgvs_p": "p.Gly1047Cys",
"transcript": "XM_047419465.1",
"protein_id": "XP_047275421.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
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{
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{
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],
"clinvar_disease": " autosomal dominant 5,Intellectual disability,not provided",
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "Intellectual disability, autosomal dominant 5|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}