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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: 6-127287611-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=127287611&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNF146",
"hgnc_id": 21336,
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001242849.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": 0.0798,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04314035177230835,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2119,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1080,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001242850.2",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368314.6",
"protein_coding": true,
"protein_id": "NP_001229779.1",
"strand": true,
"transcript": "NM_001242850.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2119,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1080,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368314.6",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001242850.2",
"protein_coding": true,
"protein_id": "ENSP00000357297.1",
"strand": true,
"transcript": "ENST00000368314.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1080,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001242849.2",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229778.1",
"strand": true,
"transcript": "NM_001242849.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1080,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001242851.1",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229780.1",
"strand": true,
"transcript": "NM_001242851.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1080,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000610153.1",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476814.1",
"strand": true,
"transcript": "ENST00000610153.1",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1913,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1080,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911117.1",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581176.1",
"strand": true,
"transcript": "ENST00000911117.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2730,
"cdna_start": 1987,
"cds_end": null,
"cds_length": 1080,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000911118.1",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581177.1",
"strand": true,
"transcript": "ENST00000911118.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1080,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000917447.1",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587506.1",
"strand": true,
"transcript": "ENST00000917447.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1077,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001242844.2",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229773.1",
"strand": true,
"transcript": "NM_001242844.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": 1524,
"cds_end": null,
"cds_length": 1077,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001242845.2",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229774.1",
"strand": true,
"transcript": "NM_001242845.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 1437,
"cds_end": null,
"cds_length": 1077,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001242846.2",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229775.1",
"strand": true,
"transcript": "NM_001242846.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 1077,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001242847.2",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229776.1",
"strand": true,
"transcript": "NM_001242847.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 358,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1077,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001242848.2",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229777.1",
"strand": true,
"transcript": "NM_001242848.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 1077,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001242852.2",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229781.1",
"strand": true,
"transcript": "NM_001242852.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 358,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 1077,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_030963.4",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_112225.2",
"strand": true,
"transcript": "NM_030963.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1077,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000608991.5",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477168.1",
"strand": true,
"transcript": "ENST00000608991.5",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1080,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017011336.3",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866825.1",
"strand": true,
"transcript": "XM_017011336.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_length": 2445,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 1077,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011536161.4",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534463.1",
"strand": true,
"transcript": "XM_011536161.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 1077,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011536163.4",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534465.1",
"strand": true,
"transcript": "XM_011536163.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1077,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011536164.4",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534466.1",
"strand": true,
"transcript": "XM_011536164.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4127,
"cdna_start": 3176,
"cds_end": null,
"cds_length": 1077,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047419386.1",
"gene_hgnc_id": 21336,
"gene_symbol": "RNF146",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
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