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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: 3-49887339-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49887339&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49887339,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002447.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.4171C>G",
"hgvs_p": "p.Arg1391Gly",
"transcript": "NM_002447.4",
"protein_id": "NP_002438.2",
"transcript_support_level": null,
"aa_start": 1391,
"aa_end": null,
"aa_length": 1400,
"cds_start": 4171,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 4435,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": "ENST00000296474.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.4171C>G",
"hgvs_p": "p.Arg1391Gly",
"transcript": "ENST00000296474.8",
"protein_id": "ENSP00000296474.3",
"transcript_support_level": 1,
"aa_start": 1391,
"aa_end": null,
"aa_length": 1400,
"cds_start": 4171,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 4435,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": "NM_002447.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3853C>G",
"hgvs_p": "p.Arg1285Gly",
"transcript": "ENST00000621387.4",
"protein_id": "ENSP00000482642.1",
"transcript_support_level": 1,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 4117,
"cdna_end": null,
"cdna_length": 4449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.4024C>G",
"hgvs_p": "p.Arg1342Gly",
"transcript": "NM_001244937.3",
"protein_id": "NP_001231866.1",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1351,
"cds_start": 4024,
"cds_end": null,
"cds_length": 4056,
"cdna_start": 4288,
"cdna_end": null,
"cdna_length": 4625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.4024C>G",
"hgvs_p": "p.Arg1342Gly",
"transcript": "ENST00000344206.8",
"protein_id": "ENSP00000341325.4",
"transcript_support_level": 5,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1351,
"cds_start": 4024,
"cds_end": null,
"cds_length": 4056,
"cdna_start": 4024,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3964C>G",
"hgvs_p": "p.Arg1322Gly",
"transcript": "NM_001437543.1",
"protein_id": "NP_001424472.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3964,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 4228,
"cdna_end": null,
"cdna_length": 4565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3964C>G",
"hgvs_p": "p.Arg1322Gly",
"transcript": "ENST00000434765.6",
"protein_id": "ENSP00000393294.2",
"transcript_support_level": 5,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3964,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 4228,
"cdna_end": null,
"cdna_length": 4565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3916C>G",
"hgvs_p": "p.Arg1306Gly",
"transcript": "ENST00000440292.2",
"protein_id": "ENSP00000414792.2",
"transcript_support_level": 3,
"aa_start": 1306,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3916,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 4180,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3853C>G",
"hgvs_p": "p.Arg1285Gly",
"transcript": "NM_001318913.2",
"protein_id": "NP_001305842.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 4117,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.4174C>G",
"hgvs_p": "p.Arg1392Gly",
"transcript": "XM_005265170.5",
"protein_id": "XP_005265227.2",
"transcript_support_level": null,
"aa_start": 1392,
"aa_end": null,
"aa_length": 1401,
"cds_start": 4174,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 4438,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.4054C>G",
"hgvs_p": "p.Arg1352Gly",
"transcript": "XM_011533739.3",
"protein_id": "XP_011532041.1",
"transcript_support_level": null,
"aa_start": 1352,
"aa_end": null,
"aa_length": 1361,
"cds_start": 4054,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 4318,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.4051C>G",
"hgvs_p": "p.Arg1351Gly",
"transcript": "XM_047448162.1",
"protein_id": "XP_047304118.1",
"transcript_support_level": null,
"aa_start": 1351,
"aa_end": null,
"aa_length": 1360,
"cds_start": 4051,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 4315,
"cdna_end": null,
"cdna_length": 4652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.4027C>G",
"hgvs_p": "p.Arg1343Gly",
"transcript": "XM_011533740.3",
"protein_id": "XP_011532042.1",
"transcript_support_level": null,
"aa_start": 1343,
"aa_end": null,
"aa_length": 1352,
"cds_start": 4027,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 4291,
"cdna_end": null,
"cdna_length": 4628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3967C>G",
"hgvs_p": "p.Arg1323Gly",
"transcript": "XM_011533741.3",
"protein_id": "XP_011532043.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3967,
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"cdna_start": 4231,
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"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3871C>G",
"hgvs_p": "p.Arg1291Gly",
"transcript": "XM_011533743.3",
"protein_id": "XP_011532045.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3871,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 4135,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3868C>G",
"hgvs_p": "p.Arg1290Gly",
"transcript": "XM_047448165.1",
"protein_id": "XP_047304121.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3868,
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"cdna_start": 4132,
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"cdna_length": 4469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3856C>G",
"hgvs_p": "p.Arg1286Gly",
"transcript": "XM_011533744.3",
"protein_id": "XP_011532046.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3856,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 4120,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3820C>G",
"hgvs_p": "p.Arg1274Gly",
"transcript": "XM_047448167.1",
"protein_id": "XP_047304123.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3820,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 4084,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3817C>G",
"hgvs_p": "p.Arg1273Gly",
"transcript": "XM_047448168.1",
"protein_id": "XP_047304124.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
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"cds_start": 3817,
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"cdna_start": 4081,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3724C>G",
"hgvs_p": "p.Arg1242Gly",
"transcript": "XM_047448172.1",
"protein_id": "XP_047304128.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3724,
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"cdna_start": 3988,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3709C>G",
"hgvs_p": "p.Arg1237Gly",
"transcript": "XM_047448173.1",
"protein_id": "XP_047304129.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3709,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3973,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3706C>G",
"hgvs_p": "p.Arg1236Gly",
"transcript": "XM_047448174.1",
"protein_id": "XP_047304130.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1245,
"cds_start": 3706,
"cds_end": null,
"cds_length": 3738,
"cdna_start": 3970,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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}
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}