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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: 12-79448968-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=79448968&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 79448968,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000261205.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "NM_005639.3",
"protein_id": "NP_005630.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": "ENST00000261205.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000261205.9",
"protein_id": "ENSP00000261205.4",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": "NM_005639.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000393240.7",
"protein_id": "ENSP00000376932.3",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000552744.5",
"protein_id": "ENSP00000447575.1",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1104C>G",
"hgvs_p": "p.Asn368Lys",
"transcript": "ENST00000457153.6",
"protein_id": "ENSP00000391056.2",
"transcript_support_level": 1,
"aa_start": 368,
"aa_end": null,
"aa_length": 419,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "NM_001135805.2",
"protein_id": "NP_001129277.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "NM_001135806.2",
"protein_id": "NP_001129278.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "NM_001415938.1",
"protein_id": "NP_001402867.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 4639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "NM_001415939.1",
"protein_id": "NP_001402868.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "NM_001415940.1",
"protein_id": "NP_001402869.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 4794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000704696.1",
"protein_id": "ENSP00000515993.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 4842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000704700.1",
"protein_id": "ENSP00000515997.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000704702.1",
"protein_id": "ENSP00000515999.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000704704.1",
"protein_id": "ENSP00000516001.1",
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"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
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"cdna_start": 1746,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000704705.1",
"protein_id": "ENSP00000516002.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000704706.1",
"protein_id": "ENSP00000516003.1",
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"aa_start": 371,
"aa_end": null,
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"cdna_start": 1833,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000704708.1",
"protein_id": "ENSP00000516005.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
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"cdna_start": 1527,
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"cdna_length": 2733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000704710.1",
"protein_id": "ENSP00000516007.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
"cds_end": null,
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"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 4739,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000704714.1",
"protein_id": "ENSP00000516009.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
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"cdna_start": 1506,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1113C>G",
"hgvs_p": "p.Asn371Lys",
"transcript": "ENST00000704718.1",
"protein_id": "ENSP00000516013.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 422,
"cds_start": 1113,
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"cdna_start": 1577,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1104C>G",
"hgvs_p": "p.Asn368Lys",
"transcript": "NM_001291901.2",
"protein_id": "NP_001278830.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 419,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 4630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.1104C>G",
"hgvs_p": "p.Asn368Lys",
"transcript": "NM_001415941.1",
"protein_id": "NP_001402870.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 419,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
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"phenotype_combined": "SYT1-associated neurodevelopmental disorder|Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}