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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: 17-40351985-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40351985&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RARA",
"hgnc_id": 9864,
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_000964.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1239,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3433719873428345,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000964.4",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000254066.10",
"protein_coding": true,
"protein_id": "NP_000955.1",
"strand": true,
"transcript": "NM_000964.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000254066.10",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000964.4",
"protein_coding": true,
"protein_id": "ENSP00000254066.5",
"strand": true,
"transcript": "ENST00000254066.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 457,
"aa_ref": "P",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1374,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000394081.7",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.530C>G",
"hgvs_p": "p.Pro177Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377643.3",
"strand": true,
"transcript": "ENST00000394081.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "P",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3041,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1098,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000425707.7",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.254C>G",
"hgvs_p": "p.Pro85Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389993.3",
"strand": true,
"transcript": "ENST00000425707.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 478,
"aa_ref": "P",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2008,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1437,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000394086.7",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.593C>G",
"hgvs_p": "p.Pro198Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377648.3",
"strand": true,
"transcript": "ENST00000394086.7",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 464,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1395,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857084.1",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527143.1",
"strand": true,
"transcript": "ENST00000857084.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001145301.3",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138773.1",
"strand": true,
"transcript": "NM_001145301.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000394089.6",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377649.2",
"strand": true,
"transcript": "ENST00000394089.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857081.1",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527140.1",
"strand": true,
"transcript": "ENST00000857081.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000857082.1",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527141.1",
"strand": true,
"transcript": "ENST00000857082.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857085.1",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527144.1",
"strand": true,
"transcript": "ENST00000857085.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857086.1",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527145.1",
"strand": true,
"transcript": "ENST00000857086.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857087.1",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527146.1",
"strand": true,
"transcript": "ENST00000857087.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3485,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857088.1",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527147.1",
"strand": true,
"transcript": "ENST00000857088.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857089.1",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527148.1",
"strand": true,
"transcript": "ENST00000857089.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920591.1",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590650.1",
"strand": true,
"transcript": "ENST00000920591.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1389,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951717.1",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621776.1",
"strand": true,
"transcript": "ENST00000951717.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "P",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1374,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001024809.4",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.530C>G",
"hgvs_p": "p.Pro177Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001019980.1",
"strand": true,
"transcript": "NM_001024809.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1251,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857083.1",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527142.1",
"strand": true,
"transcript": "ENST00000857083.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1251,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920590.1",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Pro182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590649.1",
"strand": true,
"transcript": "ENST00000920590.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "P",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 820,
"cds_end": null,
"cds_length": 1098,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001145302.3",
"gene_hgnc_id": 9864,
"gene_symbol": "RARA",
"hgvs_c": "c.254C>G",
"hgvs_p": "p.Pro85Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138774.1",
"strand": true,
"transcript": "NM_001145302.3",
"transcript_support_level": null
},
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