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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: 3-49902693-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49902693&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MST1R",
"hgnc_id": 7381,
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002447.4",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000230698",
"hgnc_id": null,
"hgvs_c": "n.218-738C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000435478.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_score": -2,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.3763,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "3",
"clinvar_classification": "risk factor",
"clinvar_disease": " 3, susceptibility to,Nasopharyngeal carcinoma",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9273713827133179,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1400,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4772,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 4203,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_002447.4",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000296474.8",
"protein_coding": true,
"protein_id": "NP_002438.2",
"strand": false,
"transcript": "NM_002447.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1400,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4772,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 4203,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000296474.8",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002447.4",
"protein_coding": true,
"protein_id": "ENSP00000296474.3",
"strand": false,
"transcript": "ENST00000296474.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4449,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 3885,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000621387.4",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482642.1",
"strand": false,
"transcript": "ENST00000621387.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000468525.5",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "n.917G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000468525.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1944,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000485044.5",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "n.917G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000485044.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1626,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000493535.5",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "n.917G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000493535.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000497001.1",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "n.917G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000497001.1",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5105,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 4206,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000858906.1",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528965.1",
"strand": false,
"transcript": "ENST00000858906.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 4206,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000858908.1",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528967.1",
"strand": false,
"transcript": "ENST00000858908.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1387,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4733,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 4164,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000858918.1",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528977.1",
"strand": false,
"transcript": "ENST00000858918.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1360,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4665,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 4083,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000858912.1",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528971.1",
"strand": false,
"transcript": "ENST00000858912.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1358,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4647,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 4077,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000858916.1",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528975.1",
"strand": false,
"transcript": "ENST00000858916.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4940,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 4059,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000858907.1",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528966.1",
"strand": false,
"transcript": "ENST00000858907.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1351,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4625,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 4056,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001244937.3",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231866.1",
"strand": false,
"transcript": "NM_001244937.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1351,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4198,
"cdna_start": 917,
"cds_end": null,
"cds_length": 4056,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000344206.8",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341325.4",
"strand": false,
"transcript": "ENST00000344206.8",
"transcript_support_level": 5
},
{
"aa_alt": "H",
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"aa_length": 1337,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 4014,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000858914.1",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528973.1",
"strand": false,
"transcript": "ENST00000858914.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4837,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 3999,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000858910.1",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000528969.1",
"strand": false,
"transcript": "ENST00000858910.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4565,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 3996,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001437543.1",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424472.1",
"strand": false,
"transcript": "NM_001437543.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4565,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 3996,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000434765.6",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393294.2",
"strand": false,
"transcript": "ENST00000434765.6",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 3948,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000440292.2",
"gene_hgnc_id": 7381,
"gene_symbol": "MST1R",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414792.2",
"strand": false,
"transcript": "ENST00000440292.2",
"transcript_support_level": 3
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1308,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4791,
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