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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: 3-47086223-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47086223&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SETD2",
"hgnc_id": 18420,
"hgvs_c": "c.5369G>C",
"hgvs_p": "p.Arg1790Pro",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_014159.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.5725,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "3",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Luscan-Lumish syndrome,not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1 O:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4989980459213257,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2564,
"aa_ref": "R",
"aa_start": 1790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8541,
"cdna_start": 5558,
"cds_end": null,
"cds_length": 7695,
"cds_start": 5369,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_014159.7",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5369G>C",
"hgvs_p": "p.Arg1790Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409792.4",
"protein_coding": true,
"protein_id": "NP_054878.5",
"strand": false,
"transcript": "NM_014159.7",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2564,
"aa_ref": "R",
"aa_start": 1790,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8541,
"cdna_start": 5558,
"cds_end": null,
"cds_length": 7695,
"cds_start": 5369,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000409792.4",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5369G>C",
"hgvs_p": "p.Arg1790Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014159.7",
"protein_coding": true,
"protein_id": "ENSP00000386759.3",
"strand": false,
"transcript": "ENST00000409792.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8172,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000330022.11",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "n.*1092G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000332415.7",
"strand": false,
"transcript": "ENST00000330022.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8172,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000330022.11",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "n.*1092G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000332415.7",
"strand": false,
"transcript": "ENST00000330022.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2538,
"aa_ref": "R",
"aa_start": 1764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8437,
"cdna_start": 5458,
"cds_end": null,
"cds_length": 7617,
"cds_start": 5291,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000952253.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5291G>C",
"hgvs_p": "p.Arg1764Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622312.1",
"strand": false,
"transcript": "ENST00000952253.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2520,
"aa_ref": "R",
"aa_start": 1746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8525,
"cdna_start": 5542,
"cds_end": null,
"cds_length": 7563,
"cds_start": 5237,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001349370.3",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5237G>C",
"hgvs_p": "p.Arg1746Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336299.1",
"strand": false,
"transcript": "NM_001349370.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2520,
"aa_ref": "R",
"aa_start": 1746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8302,
"cdna_start": 5311,
"cds_end": null,
"cds_length": 7563,
"cds_start": 5237,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000638947.2",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5237G>C",
"hgvs_p": "p.Arg1746Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491413.2",
"strand": false,
"transcript": "ENST00000638947.2",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2486,
"aa_ref": "R",
"aa_start": 1712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8109,
"cdna_start": 5135,
"cds_end": null,
"cds_length": 7461,
"cds_start": 5135,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000685005.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5135G>C",
"hgvs_p": "p.Arg1712Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509568.1",
"strand": false,
"transcript": "ENST00000685005.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5076,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 4410,
"cds_start": 2084,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000686876.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.2084G>C",
"hgvs_p": "p.Arg695Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509591.1",
"strand": false,
"transcript": "ENST00000686876.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1351,
"aa_ref": "R",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5284,
"cdna_start": 3249,
"cds_end": null,
"cds_length": 4056,
"cds_start": 3248,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000685399.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.3248G>C",
"hgvs_p": "p.Arg1083Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508683.1",
"strand": false,
"transcript": "ENST00000685399.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1348,
"aa_ref": "R",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 2385,
"cds_end": null,
"cds_length": 4047,
"cds_start": 2384,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000690157.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.2384G>C",
"hgvs_p": "p.Arg795Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509438.1",
"strand": false,
"transcript": "ENST00000690157.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "R",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 3312,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000893753.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.986G>C",
"hgvs_p": "p.Arg329Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563812.1",
"strand": false,
"transcript": "ENST00000893753.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1059,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 3180,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952254.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.854G>C",
"hgvs_p": "p.Arg285Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622313.1",
"strand": false,
"transcript": "ENST00000952254.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1016,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3792,
"cdna_start": 833,
"cds_end": null,
"cds_length": 3051,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952255.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.725G>C",
"hgvs_p": "p.Arg242Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622314.1",
"strand": false,
"transcript": "ENST00000952255.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 916,
"aa_ref": "R",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3416,
"cdna_start": 425,
"cds_end": null,
"cds_length": 2751,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000691544.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.425G>C",
"hgvs_p": "p.Arg142Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510710.1",
"strand": false,
"transcript": "ENST00000691544.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2520,
"aa_ref": "R",
"aa_start": 1746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8322,
"cdna_start": 5339,
"cds_end": null,
"cds_length": 7563,
"cds_start": 5237,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047448045.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5237G>C",
"hgvs_p": "p.Arg1746Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304001.1",
"strand": false,
"transcript": "XM_047448045.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2475,
"aa_ref": "R",
"aa_start": 1701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8187,
"cdna_start": 5204,
"cds_end": null,
"cds_length": 7428,
"cds_start": 5102,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_024453487.2",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5102G>C",
"hgvs_p": "p.Arg1701Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309255.1",
"strand": false,
"transcript": "XM_024453487.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2420,
"aa_ref": "R",
"aa_start": 1646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7981,
"cdna_start": 4998,
"cds_end": null,
"cds_length": 7263,
"cds_start": 4937,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_024453488.2",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.4937G>C",
"hgvs_p": "p.Arg1646Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309256.1",
"strand": false,
"transcript": "XM_024453488.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1633,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5065,
"cdna_start": null,
"cds_end": null,
"cds_length": 4902,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_024453489.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.*102G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309257.1",
"strand": false,
"transcript": "XM_024453489.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1633,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5065,
"cdna_start": null,
"cds_end": null,
"cds_length": 4902,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_024453489.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.*102G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309257.1",
"strand": false,
"transcript": "XM_024453489.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1162,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": null,
"cds_end": null,
"cds_length": 3489,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000691902.1",
"gene_hgnc_id": 18420,
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