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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: 11-101127496-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=101127496&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 101127496,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000926.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"transcript": "NM_000926.4",
"protein_id": "NP_000917.3",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 933,
"cds_start": 1575,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 13037,
"mane_select": "ENST00000325455.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"transcript": "ENST00000325455.10",
"protein_id": "ENSP00000325120.5",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 933,
"cds_start": 1575,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 13037,
"mane_select": "NM_000926.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"transcript": "ENST00000263463.9",
"protein_id": "ENSP00000263463.5",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 831,
"cds_start": 1575,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2496,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1575C>T",
"hgvs_p": null,
"transcript": "ENST00000526300.5",
"protein_id": "ENSP00000436803.1",
"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": 2365,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1575C>T",
"hgvs_p": null,
"transcript": "ENST00000528960.5",
"protein_id": "ENSP00000432914.1",
"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": 2633,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1575C>T",
"hgvs_p": null,
"transcript": "ENST00000534780.5",
"protein_id": "ENSP00000432352.1",
"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": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1083C>T",
"hgvs_p": "p.Tyr361Tyr",
"transcript": "NM_001202474.3",
"protein_id": "NP_001189403.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 769,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 12287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"transcript": "ENST00000619228.2",
"protein_id": "ENSP00000482698.1",
"transcript_support_level": 5,
"aa_start": 525,
"aa_end": null,
"aa_length": 764,
"cds_start": 1575,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1083C>T",
"hgvs_p": "p.Tyr361Tyr",
"transcript": "NM_001271161.2",
"protein_id": "NP_001258090.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 667,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 11981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"transcript": "XM_006718858.4",
"protein_id": "XP_006718921.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 797,
"cds_start": 1575,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"transcript": "XM_011542869.3",
"protein_id": "XP_011541171.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 611,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 7103,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1582C>T",
"hgvs_p": null,
"transcript": "NR_073141.3",
"protein_id": null,
"transcript_support_level": null,
"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": 12249,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1582C>T",
"hgvs_p": null,
"transcript": "NR_073142.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 12132,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1582C>T",
"hgvs_p": null,
"transcript": "NR_073143.3",
"protein_id": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.-145-1338C>T",
"hgvs_p": null,
"transcript": "NM_001271162.2",
"protein_id": "NP_001258091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": -4,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.-145-1338C>T",
"hgvs_p": null,
"transcript": "ENST00000534013.5",
"protein_id": "ENSP00000436561.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGR-AS1",
"gene_hgnc_id": 52650,
"hgvs_c": "n.122+58G>A",
"hgvs_p": null,
"transcript": "ENST00000531772.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGR-AS1",
"gene_hgnc_id": 52650,
"hgvs_c": "n.131+58G>A",
"hgvs_p": null,
"transcript": "ENST00000843147.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1129,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGR-AS1",
"gene_hgnc_id": 52650,
"hgvs_c": "n.122+58G>A",
"hgvs_p": null,
"transcript": "ENST00000843149.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGR-AS1",
"gene_hgnc_id": 52650,
"hgvs_c": "n.111+58G>A",
"hgvs_p": null,
"transcript": "ENST00000843150.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGR-AS1",
"gene_hgnc_id": 52650,
"hgvs_c": "n.101+58G>A",
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"transcript": "ENST00000843151.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGR-AS1",
"gene_hgnc_id": 52650,
"hgvs_c": "n.106+58G>A",
"hgvs_p": null,
"transcript": "ENST00000843166.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGR-AS1",
"gene_hgnc_id": 52650,
"hgvs_c": "n.81+58G>A",
"hgvs_p": null,
"transcript": "ENST00000843167.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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],
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"dbsnp": "rs563794209",
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"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.202,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -11,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000926.4",
"gene_symbol": "PGR",
"hgnc_id": 8910,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr"
},
{
"score": -6,
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"criteria": [
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"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000531772.2",
"gene_symbol": "PGR-AS1",
"hgnc_id": 52650,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.122+58G>A",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}