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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: 3-49889957-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49889957&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49889957,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002447.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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>A",
"hgvs_p": "p.Arg1305His",
"transcript": "NM_002447.4",
"protein_id": "NP_002438.2",
"transcript_support_level": null,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3914,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296474.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002447.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3914G>A",
"hgvs_p": "p.Arg1305His",
"transcript": "ENST00000296474.8",
"protein_id": "ENSP00000296474.3",
"transcript_support_level": 1,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3914,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002447.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296474.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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>A",
"hgvs_p": "p.Arg1199His",
"transcript": "ENST00000621387.4",
"protein_id": "ENSP00000482642.1",
"transcript_support_level": 1,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3596,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621387.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3917G>A",
"hgvs_p": "p.Arg1306His",
"transcript": "ENST00000858906.1",
"protein_id": "ENSP00000528965.1",
"transcript_support_level": null,
"aa_start": 1306,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3917,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858906.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3917G>A",
"hgvs_p": "p.Arg1306His",
"transcript": "ENST00000858908.1",
"protein_id": "ENSP00000528967.1",
"transcript_support_level": null,
"aa_start": 1306,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3917,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858908.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3875G>A",
"hgvs_p": "p.Arg1292His",
"transcript": "ENST00000858918.1",
"protein_id": "ENSP00000528977.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1387,
"cds_start": 3875,
"cds_end": null,
"cds_length": 4164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858918.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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>A",
"hgvs_p": "p.Arg1265His",
"transcript": "ENST00000858912.1",
"protein_id": "ENSP00000528971.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3794,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858912.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3788G>A",
"hgvs_p": "p.Arg1263His",
"transcript": "ENST00000858916.1",
"protein_id": "ENSP00000528975.1",
"transcript_support_level": null,
"aa_start": 1263,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3788,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858916.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3770G>A",
"hgvs_p": "p.Arg1257His",
"transcript": "ENST00000858907.1",
"protein_id": "ENSP00000528966.1",
"transcript_support_level": null,
"aa_start": 1257,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3770,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858907.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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>A",
"hgvs_p": "p.Arg1256His",
"transcript": "NM_001244937.3",
"protein_id": "NP_001231866.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1351,
"cds_start": 3767,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244937.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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>A",
"hgvs_p": "p.Arg1256His",
"transcript": "ENST00000344206.8",
"protein_id": "ENSP00000341325.4",
"transcript_support_level": 5,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1351,
"cds_start": 3767,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344206.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3725G>A",
"hgvs_p": "p.Arg1242His",
"transcript": "ENST00000858914.1",
"protein_id": "ENSP00000528973.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3725,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858914.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3710G>A",
"hgvs_p": "p.Arg1237His",
"transcript": "ENST00000858910.1",
"protein_id": "ENSP00000528969.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3710,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858910.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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>A",
"hgvs_p": "p.Arg1236His",
"transcript": "NM_001437543.1",
"protein_id": "NP_001424472.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3707,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437543.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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>A",
"hgvs_p": "p.Arg1236His",
"transcript": "ENST00000434765.6",
"protein_id": "ENSP00000393294.2",
"transcript_support_level": 5,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3707,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434765.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3659G>A",
"hgvs_p": "p.Arg1220His",
"transcript": "ENST00000440292.2",
"protein_id": "ENSP00000414792.2",
"transcript_support_level": 3,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3659,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440292.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3638G>A",
"hgvs_p": "p.Arg1213His",
"transcript": "ENST00000858909.1",
"protein_id": "ENSP00000528968.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858909.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3599G>A",
"hgvs_p": "p.Arg1200His",
"transcript": "ENST00000858921.1",
"protein_id": "ENSP00000528980.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3599,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858921.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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>A",
"hgvs_p": "p.Arg1199His",
"transcript": "NM_001318913.2",
"protein_id": "NP_001305842.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3596,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318913.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3587G>A",
"hgvs_p": "p.Arg1196His",
"transcript": "ENST00000858913.1",
"protein_id": "ENSP00000528972.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3587,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858913.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3578G>A",
"hgvs_p": "p.Arg1193His",
"transcript": "ENST00000858917.1",
"protein_id": "ENSP00000528976.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3578,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858917.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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>A",
"hgvs_p": "p.Arg1187His",
"transcript": "ENST00000858911.1",
"protein_id": "ENSP00000528970.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}