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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: 21-41819629-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=41819629&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 41819629,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000398548.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2213G>A",
"hgvs_p": "p.Arg738His",
"transcript": "NM_001040424.3",
"protein_id": "NP_001035514.2",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2213,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 6525,
"mane_select": "ENST00000398548.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2213G>A",
"hgvs_p": "p.Arg738His",
"transcript": "ENST00000398548.6",
"protein_id": "ENSP00000381556.2",
"transcript_support_level": 1,
"aa_start": 738,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2213,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 6525,
"mane_select": "NM_001040424.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"transcript": "ENST00000269844.5",
"protein_id": "ENSP00000269844.4",
"transcript_support_level": 1,
"aa_start": 804,
"aa_end": null,
"aa_length": 1207,
"cds_start": 2411,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3422,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2273G>A",
"hgvs_p": "p.Arg758His",
"transcript": "ENST00000422911.6",
"protein_id": "ENSP00000408592.2",
"transcript_support_level": 1,
"aa_start": 758,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2273,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 6714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*664G>A",
"hgvs_p": null,
"transcript": "ENST00000441787.5",
"protein_id": "ENSP00000387958.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.2213G>A",
"hgvs_p": null,
"transcript": "ENST00000447016.6",
"protein_id": "ENSP00000431410.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*664G>A",
"hgvs_p": null,
"transcript": "ENST00000449395.6",
"protein_id": "ENSP00000396943.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*664G>A",
"hgvs_p": null,
"transcript": "ENST00000441787.5",
"protein_id": "ENSP00000387958.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*664G>A",
"hgvs_p": null,
"transcript": "ENST00000449395.6",
"protein_id": "ENSP00000396943.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2411G>A",
"hgvs_p": "p.Arg804His",
"transcript": "NM_022115.7",
"protein_id": "NP_071398.5",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1207,
"cds_start": 2411,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3284,
"cdna_end": null,
"cdna_length": 7512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2273G>A",
"hgvs_p": "p.Arg758His",
"transcript": "NM_001282934.2",
"protein_id": "NP_001269863.2",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2273,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2357,
"cdna_end": null,
"cdna_length": 6585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2762G>A",
"hgvs_p": "p.Arg921His",
"transcript": "XM_011529683.2",
"protein_id": "XP_011527985.2",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2762,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 3086,
"cdna_end": null,
"cdna_length": 7314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2285G>A",
"hgvs_p": "p.Arg762His",
"transcript": "XM_011529681.4",
"protein_id": "XP_011527983.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2285,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3272,
"cdna_end": null,
"cdna_length": 7500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2273G>A",
"hgvs_p": "p.Arg758His",
"transcript": "XM_011529675.2",
"protein_id": "XP_011527977.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2273,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 6581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2273G>A",
"hgvs_p": "p.Arg758His",
"transcript": "XM_011529676.3",
"protein_id": "XP_011527978.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2273,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 4766,
"cdna_end": null,
"cdna_length": 8994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2273G>A",
"hgvs_p": "p.Arg758His",
"transcript": "XM_011529677.3",
"protein_id": "XP_011527979.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2273,
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"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 6595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2273G>A",
"hgvs_p": "p.Arg758His",
"transcript": "XM_011529678.3",
"protein_id": "XP_011527980.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2273,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 6532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2273G>A",
"hgvs_p": "p.Arg758His",
"transcript": "XM_011529679.3",
"protein_id": "XP_011527981.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2273,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 6578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2213G>A",
"hgvs_p": "p.Arg738His",
"transcript": "XM_017028425.2",
"protein_id": "XP_016883914.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2213,
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"cdna_start": 2293,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2213G>A",
"hgvs_p": "p.Arg738His",
"transcript": "XM_047440936.1",
"protein_id": "XP_047296892.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2213,
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"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2171G>A",
"hgvs_p": "p.Arg724His",
"transcript": "XM_011529674.2",
"protein_id": "XP_011527976.2",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2171,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 6483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.2141G>A",
"hgvs_p": "p.Arg714His",
"transcript": "XM_006724039.3",
"protein_id": "XP_006724102.2",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2141,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 6453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 3,
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{
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"PP3"
],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}