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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: 3-49889960-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49889960&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49889960,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002447.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3911G>T",
"hgvs_p": "p.Arg1304Leu",
"transcript": "NM_002447.4",
"protein_id": "NP_002438.2",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3911,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 4175,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": "ENST00000296474.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3911G>T",
"hgvs_p": "p.Arg1304Leu",
"transcript": "ENST00000296474.8",
"protein_id": "ENSP00000296474.3",
"transcript_support_level": 1,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3911,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 4175,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": "NM_002447.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3593G>T",
"hgvs_p": "p.Arg1198Leu",
"transcript": "ENST00000621387.4",
"protein_id": "ENSP00000482642.1",
"transcript_support_level": 1,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3593,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3857,
"cdna_end": null,
"cdna_length": 4449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3764G>T",
"hgvs_p": "p.Arg1255Leu",
"transcript": "NM_001244937.3",
"protein_id": "NP_001231866.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1351,
"cds_start": 3764,
"cds_end": null,
"cds_length": 4056,
"cdna_start": 4028,
"cdna_end": null,
"cdna_length": 4625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3764G>T",
"hgvs_p": "p.Arg1255Leu",
"transcript": "ENST00000344206.8",
"protein_id": "ENSP00000341325.4",
"transcript_support_level": 5,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1351,
"cds_start": 3764,
"cds_end": null,
"cds_length": 4056,
"cdna_start": 3764,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3704G>T",
"hgvs_p": "p.Arg1235Leu",
"transcript": "NM_001437543.1",
"protein_id": "NP_001424472.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3704,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 3968,
"cdna_end": null,
"cdna_length": 4565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3704G>T",
"hgvs_p": "p.Arg1235Leu",
"transcript": "ENST00000434765.6",
"protein_id": "ENSP00000393294.2",
"transcript_support_level": 5,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3704,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 3968,
"cdna_end": null,
"cdna_length": 4565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3656G>T",
"hgvs_p": "p.Arg1219Leu",
"transcript": "ENST00000440292.2",
"protein_id": "ENSP00000414792.2",
"transcript_support_level": 3,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3656,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 3920,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3593G>T",
"hgvs_p": "p.Arg1198Leu",
"transcript": "NM_001318913.2",
"protein_id": "NP_001305842.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3593,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3857,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3914G>T",
"hgvs_p": "p.Arg1305Leu",
"transcript": "XM_005265170.5",
"protein_id": "XP_005265227.2",
"transcript_support_level": null,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3914,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 4178,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3794G>T",
"hgvs_p": "p.Arg1265Leu",
"transcript": "XM_011533739.3",
"protein_id": "XP_011532041.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 1361,
"cds_start": 3794,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 4058,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3791G>T",
"hgvs_p": "p.Arg1264Leu",
"transcript": "XM_047448162.1",
"protein_id": "XP_047304118.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3791,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 4055,
"cdna_end": null,
"cdna_length": 4652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3767G>T",
"hgvs_p": "p.Arg1256Leu",
"transcript": "XM_011533740.3",
"protein_id": "XP_011532042.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3767,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 4031,
"cdna_end": null,
"cdna_length": 4628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3707G>T",
"hgvs_p": "p.Arg1236Leu",
"transcript": "XM_011533741.3",
"protein_id": "XP_011532043.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3707,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3971,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3596G>T",
"hgvs_p": "p.Arg1199Leu",
"transcript": "XM_011533744.3",
"protein_id": "XP_011532046.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3596,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 3860,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3560G>T",
"hgvs_p": "p.Arg1187Leu",
"transcript": "XM_047448167.1",
"protein_id": "XP_047304123.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3560,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3824,
"cdna_end": null,
"cdna_length": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3557G>T",
"hgvs_p": "p.Arg1186Leu",
"transcript": "XM_047448168.1",
"protein_id": "XP_047304124.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3557,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3821,
"cdna_end": null,
"cdna_length": 4418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3449G>T",
"hgvs_p": "p.Arg1150Leu",
"transcript": "XM_047448173.1",
"protein_id": "XP_047304129.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3449,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3713,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3446G>T",
"hgvs_p": "p.Arg1149Leu",
"transcript": "XM_047448174.1",
"protein_id": "XP_047304130.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1245,
"cds_start": 3446,
"cds_end": null,
"cds_length": 3738,
"cdna_start": 3710,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3266G>T",
"hgvs_p": "p.Arg1089Leu",
"transcript": "XM_047448176.1",
"protein_id": "XP_047304132.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1185,
"cds_start": 3266,
"cds_end": null,
"cds_length": 3558,
"cdna_start": 3530,
"cdna_end": null,
"cdna_length": 4127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "n.*733G>T",
"hgvs_p": null,
"transcript": "ENST00000411578.6",
"protein_id": "ENSP00000407926.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "n.*1705G>T",
"hgvs_p": null,
"transcript": "ENST00000714251.1",
"protein_id": "ENSP00000519532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
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}