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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: 11-119180273-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119180273&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NLRX1",
"hgnc_id": 29890,
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_024618.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4756,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7969026565551758,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4131,
"cdna_start": 2878,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282144.2",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409109.6",
"protein_coding": true,
"protein_id": "NP_001269073.1",
"strand": true,
"transcript": "NM_001282144.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4131,
"cdna_start": 2878,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000409109.6",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001282144.2",
"protein_coding": true,
"protein_id": "ENSP00000387334.1",
"strand": true,
"transcript": "ENST00000409109.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 2493,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000292199.6",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000292199.2",
"strand": true,
"transcript": "ENST00000292199.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": 2467,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000409991.5",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386851.1",
"strand": true,
"transcript": "ENST00000409991.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 2470,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282143.2",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269072.1",
"strand": true,
"transcript": "NM_001282143.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 2414,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282358.2",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269287.1",
"strand": true,
"transcript": "NM_001282358.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3750,
"cdna_start": 2497,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_024618.4",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_078894.2",
"strand": true,
"transcript": "NM_024618.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": 2589,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000706729.1",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516519.1",
"strand": true,
"transcript": "ENST00000706729.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4031,
"cdna_start": 2778,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886077.1",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556136.1",
"strand": true,
"transcript": "ENST00000886077.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886078.1",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556137.1",
"strand": true,
"transcript": "ENST00000886078.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 2610,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886079.1",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556138.1",
"strand": true,
"transcript": "ENST00000886079.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3835,
"cdna_start": 2589,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886080.1",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556139.1",
"strand": true,
"transcript": "ENST00000886080.1",
"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": 4030,
"cdna_start": 2782,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000920615.1",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590674.1",
"strand": true,
"transcript": "ENST00000920615.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964948.1",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635007.1",
"strand": true,
"transcript": "ENST00000964948.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964949.1",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635008.1",
"strand": true,
"transcript": "ENST00000964949.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 975,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964950.1",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635009.1",
"strand": true,
"transcript": "ENST00000964950.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 2350,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964951.1",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635010.1",
"strand": true,
"transcript": "ENST00000964951.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 922,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": 2437,
"cds_end": null,
"cds_length": 2769,
"cds_start": 2093,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000706727.1",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2093G>T",
"hgvs_p": "p.Arg698Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516516.1",
"strand": true,
"transcript": "ENST00000706727.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 2497,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_170722.2",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_733840.1",
"strand": true,
"transcript": "NM_170722.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 921,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000525863.1",
"gene_hgnc_id": 29890,
"gene_symbol": "NLRX1",
"hgvs_c": "c.2252G>T",
"hgvs_p": "p.Arg751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433442.1",
"strand": true,
"transcript": "ENST00000525863.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 797,
"aa_ref": "R",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3747,
"cdna_start": 2525,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000474751.7",
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