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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: 2-224774916-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=224774916&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 224774916,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001363762.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6002C>G",
"hgvs_p": "p.Thr2001Arg",
"transcript": "NM_014689.3",
"protein_id": "NP_055504.2",
"transcript_support_level": null,
"aa_start": 2001,
"aa_end": null,
"aa_length": 2186,
"cds_start": 6002,
"cds_end": null,
"cds_length": 6561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258390.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014689.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6002C>G",
"hgvs_p": "p.Thr2001Arg",
"transcript": "ENST00000258390.12",
"protein_id": "ENSP00000258390.7",
"transcript_support_level": 5,
"aa_start": 2001,
"aa_end": null,
"aa_length": 2186,
"cds_start": 6002,
"cds_end": null,
"cds_length": 6561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014689.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258390.12"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.5984C>G",
"hgvs_p": "p.Thr1995Arg",
"transcript": "ENST00000409592.7",
"protein_id": "ENSP00000386694.3",
"transcript_support_level": 1,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2180,
"cds_start": 5984,
"cds_end": null,
"cds_length": 6543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409592.7"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6041C>G",
"hgvs_p": "p.Thr2014Arg",
"transcript": "NM_001363762.1",
"protein_id": "NP_001350691.1",
"transcript_support_level": null,
"aa_start": 2014,
"aa_end": null,
"aa_length": 2199,
"cds_start": 6041,
"cds_end": null,
"cds_length": 6600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363762.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6041C>G",
"hgvs_p": "p.Thr2014Arg",
"transcript": "ENST00000645028.1",
"protein_id": "ENSP00000493664.1",
"transcript_support_level": null,
"aa_start": 2014,
"aa_end": null,
"aa_length": 2199,
"cds_start": 6041,
"cds_end": null,
"cds_length": 6600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645028.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.5984C>G",
"hgvs_p": "p.Thr1995Arg",
"transcript": "NM_001290263.2",
"protein_id": "NP_001277192.1",
"transcript_support_level": null,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2180,
"cds_start": 5984,
"cds_end": null,
"cds_length": 6543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290263.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.749C>G",
"hgvs_p": "p.Thr250Arg",
"transcript": "ENST00000698072.1",
"protein_id": "ENSP00000513544.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 442,
"cds_start": 749,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698072.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Thr150Arg",
"transcript": "ENST00000535663.1",
"protein_id": "ENSP00000437947.1",
"transcript_support_level": 4,
"aa_start": 150,
"aa_end": null,
"aa_length": 188,
"cds_start": 449,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535663.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6041C>G",
"hgvs_p": "p.Thr2014Arg",
"transcript": "XM_006712617.5",
"protein_id": "XP_006712680.1",
"transcript_support_level": null,
"aa_start": 2014,
"aa_end": null,
"aa_length": 2206,
"cds_start": 6041,
"cds_end": null,
"cds_length": 6621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712617.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6014C>G",
"hgvs_p": "p.Thr2005Arg",
"transcript": "XM_017004447.2",
"protein_id": "XP_016859936.1",
"transcript_support_level": null,
"aa_start": 2005,
"aa_end": null,
"aa_length": 2197,
"cds_start": 6014,
"cds_end": null,
"cds_length": 6594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004447.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6002C>G",
"hgvs_p": "p.Thr2001Arg",
"transcript": "XM_047444918.1",
"protein_id": "XP_047300874.1",
"transcript_support_level": null,
"aa_start": 2001,
"aa_end": null,
"aa_length": 2193,
"cds_start": 6002,
"cds_end": null,
"cds_length": 6582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444918.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6014C>G",
"hgvs_p": "p.Thr2005Arg",
"transcript": "XM_047444919.1",
"protein_id": "XP_047300875.1",
"transcript_support_level": null,
"aa_start": 2005,
"aa_end": null,
"aa_length": 2190,
"cds_start": 6014,
"cds_end": null,
"cds_length": 6573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444919.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.5984C>G",
"hgvs_p": "p.Thr1995Arg",
"transcript": "XM_047444920.1",
"protein_id": "XP_047300876.1",
"transcript_support_level": null,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2187,
"cds_start": 5984,
"cds_end": null,
"cds_length": 6564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444920.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.5975C>G",
"hgvs_p": "p.Thr1992Arg",
"transcript": "XM_047444921.1",
"protein_id": "XP_047300877.1",
"transcript_support_level": null,
"aa_start": 1992,
"aa_end": null,
"aa_length": 2184,
"cds_start": 5975,
"cds_end": null,
"cds_length": 6555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444921.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.5975C>G",
"hgvs_p": "p.Thr1992Arg",
"transcript": "XM_047444922.1",
"protein_id": "XP_047300878.1",
"transcript_support_level": null,
"aa_start": 1992,
"aa_end": null,
"aa_length": 2177,
"cds_start": 5975,
"cds_end": null,
"cds_length": 6534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444922.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.5942C>G",
"hgvs_p": "p.Thr1981Arg",
"transcript": "XM_047444923.1",
"protein_id": "XP_047300879.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5942,
"cds_end": null,
"cds_length": 6522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444923.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.5957C>G",
"hgvs_p": "p.Thr1986Arg",
"transcript": "XM_047444924.1",
"protein_id": "XP_047300880.1",
"transcript_support_level": null,
"aa_start": 1986,
"aa_end": null,
"aa_length": 2171,
"cds_start": 5957,
"cds_end": null,
"cds_length": 6516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444924.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.5942C>G",
"hgvs_p": "p.Thr1981Arg",
"transcript": "XM_047444925.1",
"protein_id": "XP_047300881.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2166,
"cds_start": 5942,
"cds_end": null,
"cds_length": 6501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444925.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.5915C>G",
"hgvs_p": "p.Thr1972Arg",
"transcript": "XM_047444926.1",
"protein_id": "XP_047300882.1",
"transcript_support_level": null,
"aa_start": 1972,
"aa_end": null,
"aa_length": 2164,
"cds_start": 5915,
"cds_end": null,
"cds_length": 6495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444926.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.5894C>G",
"hgvs_p": "p.Thr1965Arg",
"transcript": "XM_047444927.1",
"protein_id": "XP_047300883.1",
"transcript_support_level": null,
"aa_start": 1965,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5894,
"cds_end": null,
"cds_length": 6474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444927.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.5894C>G",
"hgvs_p": "p.Thr1965Arg",
"transcript": "XM_047444928.1",
"protein_id": "XP_047300884.1",
"transcript_support_level": null,
"aa_start": 1965,
"aa_end": null,
"aa_length": 2150,
"cds_start": 5894,
"cds_end": null,
"cds_length": 6453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444928.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.5855C>G",
"hgvs_p": "p.Thr1952Arg",
"transcript": "XM_047444929.1",
"protein_id": "XP_047300885.1",
"transcript_support_level": null,
"aa_start": 1952,
"aa_end": null,
"aa_length": 2144,
"cds_start": 5855,
"cds_end": null,
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}