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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: 3-113453524-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=113453524&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 113453524,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_144718.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "NM_144718.4",
"protein_id": "NP_653319.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 5417,
"mane_select": "ENST00000295872.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144718.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "ENST00000295872.8",
"protein_id": "ENSP00000295872.4",
"transcript_support_level": 1,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 5417,
"mane_select": "NM_144718.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295872.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1-CFAP44",
"gene_hgnc_id": 58084,
"hgvs_c": "n.2084A>G",
"hgvs_p": null,
"transcript": "ENST00000649772.1",
"protein_id": "ENSP00000497606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649772.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Glu702Gly",
"transcript": "ENST00000854922.1",
"protein_id": "ENSP00000524981.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 862,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854922.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Glu702Gly",
"transcript": "ENST00000854925.1",
"protein_id": "ENSP00000524984.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 862,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854925.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "NM_001331078.2",
"protein_id": "NP_001318007.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 5234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331078.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "NM_001331079.2",
"protein_id": "NP_001318008.2",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 5517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331079.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "NM_001387939.1",
"protein_id": "NP_001374868.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 5656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387939.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "ENST00000854918.1",
"protein_id": "ENSP00000524977.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2216,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854918.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "ENST00000854920.1",
"protein_id": "ENSP00000524979.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854920.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "ENST00000854923.1",
"protein_id": "ENSP00000524982.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854923.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "ENST00000854926.1",
"protein_id": "ENSP00000524985.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854926.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "ENST00000930826.1",
"protein_id": "ENSP00000600885.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930826.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "ENST00000930827.1",
"protein_id": "ENSP00000600886.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930827.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "ENST00000930828.1",
"protein_id": "ENSP00000600887.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2439,
"cdna_end": null,
"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930828.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "ENST00000930829.1",
"protein_id": "ENSP00000600888.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 855,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930829.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "ENST00000854927.1",
"protein_id": "ENSP00000524986.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 854,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854927.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2063A>G",
"hgvs_p": "p.Glu688Gly",
"transcript": "ENST00000854919.1",
"protein_id": "ENSP00000524978.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 848,
"cds_start": 2063,
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"cds_length": 2547,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854919.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2063A>G",
"hgvs_p": "p.Glu688Gly",
"transcript": "ENST00000854921.1",
"protein_id": "ENSP00000524980.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 848,
"cds_start": 2063,
"cds_end": null,
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"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 3461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854921.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2063A>G",
"hgvs_p": "p.Glu688Gly",
"transcript": "ENST00000968436.1",
"protein_id": "ENSP00000638495.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 847,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968436.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.2036A>G",
"hgvs_p": "p.Glu679Gly",
"transcript": "ENST00000854924.1",
"protein_id": "ENSP00000524983.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 839,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPICE1",
"gene_hgnc_id": 25083,
"hgvs_c": "c.323-5384A>G",
"hgvs_p": null,
"transcript": "ENST00000467618.1",
"protein_id": "ENSP00000420363.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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}