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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: 12-39370222-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=39370222&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 39370222,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000361418.10",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "NM_001173464.2",
"protein_id": "NP_001166935.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1674,
"cds_start": 84,
"cds_end": null,
"cds_length": 5025,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6371,
"mane_select": "ENST00000361418.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "ENST00000361418.10",
"protein_id": "ENSP00000354878.5",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 1674,
"cds_start": 84,
"cds_end": null,
"cds_length": 5025,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6371,
"mane_select": "NM_001173464.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "ENST00000361961.7",
"protein_id": "ENSP00000354851.3",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 1661,
"cds_start": 84,
"cds_end": null,
"cds_length": 4986,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 6601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "ENST00000544797.6",
"protein_id": "ENSP00000445606.2",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 1637,
"cds_start": 84,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 5040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "ENST00000541463.6",
"protein_id": "ENSP00000438075.2",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 1621,
"cds_start": 84,
"cds_end": null,
"cds_length": 4866,
"cdna_start": 84,
"cdna_end": null,
"cdna_length": 4866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "NM_001378439.1",
"protein_id": "NP_001365368.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1675,
"cds_start": 84,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "NM_001378440.1",
"protein_id": "NP_001365369.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1670,
"cds_start": 84,
"cds_end": null,
"cds_length": 5013,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "NM_001378441.1",
"protein_id": "NP_001365370.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1662,
"cds_start": 84,
"cds_end": null,
"cds_length": 4989,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "NM_017641.4",
"protein_id": "NP_060111.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1661,
"cds_start": 84,
"cds_end": null,
"cds_length": 4986,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.57C>G",
"hgvs_p": "p.Cys19Trp",
"transcript": "ENST00000636569.1",
"protein_id": "ENSP00000490369.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 1653,
"cds_start": 57,
"cds_end": null,
"cds_length": 4962,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "NM_001173463.2",
"protein_id": "NP_001166934.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1637,
"cds_start": 84,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "NM_001173465.2",
"protein_id": "NP_001166936.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1621,
"cds_start": 84,
"cds_end": null,
"cds_length": 4866,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "XM_005269009.4",
"protein_id": "XP_005269066.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1668,
"cds_start": 84,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "XM_047429119.1",
"protein_id": "XP_047285075.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
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"cds_start": 84,
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"cdna_start": 234,
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"cdna_length": 6338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "XM_005269011.4",
"protein_id": "XP_005269068.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1657,
"cds_start": 84,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "XM_017019607.3",
"protein_id": "XP_016875096.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
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"cds_start": 84,
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"cdna_start": 234,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "XM_006719493.4",
"protein_id": "XP_006719556.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1655,
"cds_start": 84,
"cds_end": null,
"cds_length": 4968,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "XM_011538556.4",
"protein_id": "XP_011536858.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1652,
"cds_start": 84,
"cds_end": null,
"cds_length": 4959,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6305,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "XM_047429120.1",
"protein_id": "XP_047285076.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "XM_047429121.1",
"protein_id": "XP_047285077.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1650,
"cds_start": 84,
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"cdna_start": 234,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "XM_017019608.3",
"protein_id": "XP_016875097.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1644,
"cds_start": 84,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
"gene_hgnc_id": 19349,
"hgvs_c": "c.84C>G",
"hgvs_p": "p.Cys28Trp",
"transcript": "XM_047429122.1",
"protein_id": "XP_047285078.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1634,
"cds_start": 84,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 6251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF21A",
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