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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: 1-29196235-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=29196235&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 29196235,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000263702.11",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.Tyr285Cys",
"transcript": "NM_016011.5",
"protein_id": "NP_057095.4",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 373,
"cds_start": 854,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": "ENST00000263702.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.Tyr285Cys",
"transcript": "ENST00000263702.11",
"protein_id": "ENSP00000263702.6",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 373,
"cds_start": 854,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": "NM_016011.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.959A>G",
"hgvs_p": "p.Tyr320Cys",
"transcript": "NM_001349715.2",
"protein_id": "NP_001336644.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 408,
"cds_start": 959,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.938A>G",
"hgvs_p": "p.Tyr313Cys",
"transcript": "NM_001349716.2",
"protein_id": "NP_001336645.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 401,
"cds_start": 938,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Tyr235Cys",
"transcript": "NM_001349717.2",
"protein_id": "NP_001336646.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 323,
"cds_start": 704,
"cds_end": null,
"cds_length": 972,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Tyr209Cys",
"transcript": "NM_001024732.4",
"protein_id": "NP_001019903.3",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 626,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Tyr209Cys",
"transcript": "NM_001349711.2",
"protein_id": "NP_001336640.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 626,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Tyr209Cys",
"transcript": "NM_001349712.2",
"protein_id": "NP_001336641.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 626,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Tyr209Cys",
"transcript": "NM_001349713.2",
"protein_id": "NP_001336642.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 626,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Tyr209Cys",
"transcript": "NM_001349714.2",
"protein_id": "NP_001336643.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 626,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Tyr209Cys",
"transcript": "ENST00000373791.7",
"protein_id": "ENSP00000362896.3",
"transcript_support_level": 2,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 626,
"cds_end": null,
"cds_length": 894,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.938A>G",
"hgvs_p": "p.Tyr313Cys",
"transcript": "XM_011541541.2",
"protein_id": "XP_011539843.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 364,
"cds_start": 938,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.Tyr285Cys",
"transcript": "XM_047422042.1",
"protein_id": "XP_047277998.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 336,
"cds_start": 854,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.626A>G",
"hgvs_p": "p.Tyr209Cys",
"transcript": "XM_047422051.1",
"protein_id": "XP_047278007.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 626,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1083A>G",
"hgvs_p": "p.Leu361Leu",
"transcript": "XM_011541539.2",
"protein_id": "XP_011539841.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 459,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.999A>G",
"hgvs_p": "p.Leu333Leu",
"transcript": "XM_011541540.3",
"protein_id": "XP_011539842.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 431,
"cds_start": 999,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.771A>G",
"hgvs_p": "p.Leu257Leu",
"transcript": "XM_011541546.2",
"protein_id": "XP_011539848.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 355,
"cds_start": 771,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2321,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.516A>G",
"hgvs_p": null,
"transcript": "ENST00000453185.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 623,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.473A>G",
"hgvs_p": null,
"transcript": "ENST00000463412.1",
"protein_id": "ENSP00000436831.1",
"transcript_support_level": 5,
"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": 915,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.503A>G",
"hgvs_p": null,
"transcript": "ENST00000473030.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 919,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.272A>G",
"hgvs_p": null,
"transcript": "ENST00000475773.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 780,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.753A>G",
"hgvs_p": null,
"transcript": "ENST00000478505.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 857,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.98A>G",
"hgvs_p": null,
"transcript": "ENST00000483435.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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],
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"dbsnp": "rs759218713",
"frequency_reference_population": 0.000002479135,
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"computational_score_selected": 0.9289535880088806,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.672,
"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.697,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000263702.11",
"gene_symbol": "MECR",
"hgnc_id": 19691,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.854A>G",
"hgvs_p": "p.Tyr285Cys"
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],
"clinvar_disease": " childhood-onset, with optic atrophy and basal ganglia abnormalities,Childhood Onset Dystonias,Dystonia,Optic atrophy",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities|Childhood Onset Dystonias;Optic atrophy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}