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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: 3-47241004-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47241004&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47241004,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001413976.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Pro574Arg",
"transcript": "NM_182902.4",
"protein_id": "NP_878905.2",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 790,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": "ENST00000684063.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182902.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Pro574Arg",
"transcript": "ENST00000684063.1",
"protein_id": "ENSP00000507186.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 790,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": "NM_182902.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684063.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Pro574Arg",
"transcript": "ENST00000452770.6",
"protein_id": "ENSP00000391100.2",
"transcript_support_level": 1,
"aa_start": 574,
"aa_end": null,
"aa_length": 790,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452770.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1526C>G",
"hgvs_p": "p.Pro509Arg",
"transcript": "ENST00000444589.6",
"protein_id": "ENSP00000414987.2",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 725,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444589.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1820C>G",
"hgvs_p": "p.Pro607Arg",
"transcript": "NM_001413976.1",
"protein_id": "NP_001400905.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 823,
"cds_start": 1820,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 3333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413976.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1763C>G",
"hgvs_p": "p.Pro588Arg",
"transcript": "NM_001413975.1",
"protein_id": "NP_001400904.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 804,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413975.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Pro574Arg",
"transcript": "NM_001134878.3",
"protein_id": "NP_001128350.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 790,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134878.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Pro574Arg",
"transcript": "ENST00000265529.7",
"protein_id": "ENSP00000265529.3",
"transcript_support_level": 5,
"aa_start": 574,
"aa_end": null,
"aa_length": 790,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2402,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265529.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Pro574Arg",
"transcript": "ENST00000888734.1",
"protein_id": "ENSP00000558793.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 790,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888734.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Pro574Arg",
"transcript": "ENST00000888735.1",
"protein_id": "ENSP00000558794.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 790,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888735.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Pro574Arg",
"transcript": "ENST00000888736.1",
"protein_id": "ENSP00000558795.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 790,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888736.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Pro574Arg",
"transcript": "ENST00000888737.1",
"protein_id": "ENSP00000558796.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 790,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888737.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1658C>G",
"hgvs_p": "p.Pro553Arg",
"transcript": "ENST00000964531.1",
"protein_id": "ENSP00000634590.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 769,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964531.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1544C>G",
"hgvs_p": "p.Pro515Arg",
"transcript": "ENST00000964530.1",
"protein_id": "ENSP00000634589.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 731,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1818,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964530.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1526C>G",
"hgvs_p": "p.Pro509Arg",
"transcript": "NM_022342.6",
"protein_id": "NP_071737.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 725,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022342.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1526C>G",
"hgvs_p": "p.Pro509Arg",
"transcript": "ENST00000964529.1",
"protein_id": "ENSP00000634588.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 725,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964529.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1496C>G",
"hgvs_p": "p.Pro499Arg",
"transcript": "NM_001377474.1",
"protein_id": "NP_001364403.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 715,
"cds_start": 1496,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 3112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377474.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1301C>G",
"hgvs_p": "p.Pro434Arg",
"transcript": "NM_001377475.1",
"protein_id": "NP_001364404.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 650,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377475.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Pro574Arg",
"transcript": "XM_017007029.2",
"protein_id": "XP_016862518.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 790,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007029.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Pro574Arg",
"transcript": "XM_047448709.1",
"protein_id": "XP_047304665.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 790,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448709.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1625C>G",
"hgvs_p": "p.Pro542Arg",
"transcript": "XM_005265389.5",
"protein_id": "XP_005265446.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 758,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265389.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1820C>G",
"hgvs_p": "p.Pro607Arg",
"transcript": "XM_047448710.1",
"protein_id": "XP_047304666.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 758,
"cds_start": 1820,
"cds_end": null,
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}
],
"message": null
}