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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: 10-93793349-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=93793349&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 93793349,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000371418.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "c.837A>G",
"hgvs_p": "p.Thr279Thr",
"transcript": "NM_005097.4",
"protein_id": "NP_005088.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 557,
"cds_start": 837,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": "ENST00000371418.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "c.837A>G",
"hgvs_p": "p.Thr279Thr",
"transcript": "ENST00000371418.9",
"protein_id": "ENSP00000360472.4",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 557,
"cds_start": 837,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": "NM_005097.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "c.837A>G",
"hgvs_p": "p.Thr279Thr",
"transcript": "ENST00000371413.4",
"protein_id": "ENSP00000360467.3",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 291,
"cds_start": 837,
"cds_end": null,
"cds_length": 876,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "n.4752A>G",
"hgvs_p": null,
"transcript": "ENST00000626307.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "n.*546A>G",
"hgvs_p": null,
"transcript": "ENST00000627420.2",
"protein_id": "ENSP00000487116.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "n.*546A>G",
"hgvs_p": null,
"transcript": "ENST00000627420.2",
"protein_id": "ENSP00000487116.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "c.-535A>G",
"hgvs_p": null,
"transcript": "ENST00000637689.1",
"protein_id": "ENSP00000490496.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": -4,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "c.765A>G",
"hgvs_p": "p.Thr255Thr",
"transcript": "ENST00000629035.2",
"protein_id": "ENSP00000486908.1",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 533,
"cds_start": 765,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "c.693A>G",
"hgvs_p": "p.Thr231Thr",
"transcript": "NM_001308276.2",
"protein_id": "NP_001295205.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 509,
"cds_start": 693,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "c.693A>G",
"hgvs_p": "p.Thr231Thr",
"transcript": "ENST00000630047.2",
"protein_id": "ENSP00000485917.1",
"transcript_support_level": 2,
"aa_start": 231,
"aa_end": null,
"aa_length": 509,
"cds_start": 693,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "c.837A>G",
"hgvs_p": "p.Thr279Thr",
"transcript": "NM_001308275.2",
"protein_id": "NP_001295204.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 291,
"cds_start": 837,
"cds_end": null,
"cds_length": 876,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 1458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "c.837A>G",
"hgvs_p": "p.Thr279Thr",
"transcript": "ENST00000636155.1",
"protein_id": "ENSP00000490355.1",
"transcript_support_level": 5,
"aa_start": 279,
"aa_end": null,
"aa_length": 287,
"cds_start": 837,
"cds_end": null,
"cds_length": 864,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "c.837A>G",
"hgvs_p": "p.Thr279Thr",
"transcript": "XM_017016911.3",
"protein_id": "XP_016872400.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 281,
"cds_start": 837,
"cds_end": null,
"cds_length": 846,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 5313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "c.693A>G",
"hgvs_p": "p.Thr231Thr",
"transcript": "XM_017016912.3",
"protein_id": "XP_016872401.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 693,
"cds_end": null,
"cds_length": 732,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "n.4813A>G",
"hgvs_p": null,
"transcript": "ENST00000485458.3",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "n.507A>G",
"hgvs_p": null,
"transcript": "ENST00000626946.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "n.837A>G",
"hgvs_p": null,
"transcript": "ENST00000635953.1",
"protein_id": "ENSP00000490058.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "n.*623A>G",
"hgvs_p": null,
"transcript": "ENST00000636232.1",
"protein_id": "ENSP00000490325.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "n.*679A>G",
"hgvs_p": null,
"transcript": "ENST00000636754.1",
"protein_id": "ENSP00000489781.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "n.*1006A>G",
"hgvs_p": null,
"transcript": "ENST00000636946.1",
"protein_id": "ENSP00000490654.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "n.*427A>G",
"hgvs_p": null,
"transcript": "ENST00000637037.1",
"protein_id": "ENSP00000490860.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGI1",
"gene_hgnc_id": 6572,
"hgvs_c": "n.698A>G",
"hgvs_p": null,
"transcript": "ENST00000637347.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Autosomal dominant epilepsy with auditory features|Inborn genetic diseases",
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}
],
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}