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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: 5-123553121-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=123553121&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 123553121,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001364140.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "NM_001364140.2",
"protein_id": "NP_001351069.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 456,
"cds_start": 193,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000696905.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364140.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "ENST00000696905.1",
"protein_id": "ENSP00000512966.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 456,
"cds_start": 193,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001364140.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696905.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "ENST00000345990.9",
"protein_id": "ENSP00000334735.5",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 455,
"cds_start": 193,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345990.9"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "ENST00000360683.6",
"protein_id": "ENSP00000353904.2",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 455,
"cds_start": 193,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360683.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "ENST00000361991.6",
"protein_id": "ENSP00000354942.2",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 447,
"cds_start": 193,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361991.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.268A>T",
"hgvs_p": "p.Thr90Ser",
"transcript": "ENST00000895972.1",
"protein_id": "ENSP00000566031.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 481,
"cds_start": 268,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895972.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.268A>T",
"hgvs_p": "p.Thr90Ser",
"transcript": "ENST00000895961.1",
"protein_id": "ENSP00000566020.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 480,
"cds_start": 268,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895961.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.268A>T",
"hgvs_p": "p.Thr90Ser",
"transcript": "ENST00000895970.1",
"protein_id": "ENSP00000566029.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 472,
"cds_start": 268,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895970.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.268A>T",
"hgvs_p": "p.Thr90Ser",
"transcript": "ENST00000895975.1",
"protein_id": "ENSP00000566034.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 471,
"cds_start": 268,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895975.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.268A>T",
"hgvs_p": "p.Thr90Ser",
"transcript": "ENST00000895965.1",
"protein_id": "ENSP00000566024.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 470,
"cds_start": 268,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895965.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "ENST00000962235.1",
"protein_id": "ENSP00000632294.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 456,
"cds_start": 193,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962235.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "ENST00000962238.1",
"protein_id": "ENSP00000632297.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 456,
"cds_start": 193,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962238.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "NM_001044723.3",
"protein_id": "NP_001038188.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 455,
"cds_start": 193,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001044723.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "NM_001437477.1",
"protein_id": "NP_001424406.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 454,
"cds_start": 193,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437477.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "ENST00000895958.1",
"protein_id": "ENSP00000566017.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 454,
"cds_start": 193,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895958.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "ENST00000895971.1",
"protein_id": "ENSP00000566030.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 454,
"cds_start": 193,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895971.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "ENST00000962236.1",
"protein_id": "ENSP00000632295.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 454,
"cds_start": 193,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962236.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "ENST00000962237.1",
"protein_id": "ENSP00000632296.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 454,
"cds_start": 193,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962237.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "NM_001437479.1",
"protein_id": "NP_001424408.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 453,
"cds_start": 193,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437479.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "ENST00000895954.1",
"protein_id": "ENSP00000566013.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 453,
"cds_start": 193,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895954.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.193A>T",
"hgvs_p": "p.Thr65Ser",
"transcript": "ENST00000962239.1",
"protein_id": "ENSP00000632298.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 453,
"cds_start": 193,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962239.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G3",
"gene_hgnc_id": 2456,
"hgvs_c": "c.268A>T",
"hgvs_p": "p.Thr90Ser",
"transcript": "NM_001364141.2",
"protein_id": "NP_001351070.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 448,
"cds_start": 268,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
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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
}