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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: 15-49328020-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=49328020&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 49328020,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002044.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Pro413Leu",
"transcript": "NM_002044.4",
"protein_id": "NP_002035.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 458,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "ENST00000560031.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Pro413Leu",
"transcript": "ENST00000560031.6",
"protein_id": "ENSP00000453129.1",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 458,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "NM_002044.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1205C>T",
"hgvs_p": "p.Pro402Leu",
"transcript": "ENST00000327171.7",
"protein_id": "ENSP00000316632.3",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 447,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 5299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.*548G>A",
"hgvs_p": null,
"transcript": "NM_152647.3",
"protein_id": "NP_689860.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": "ENST00000299338.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.*548G>A",
"hgvs_p": null,
"transcript": "ENST00000299338.11",
"protein_id": "ENSP00000299338.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": "NM_152647.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1205C>T",
"hgvs_p": "p.Pro402Leu",
"transcript": "NM_001001556.3",
"protein_id": "NP_001001556.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 447,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 5290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Pro389Leu",
"transcript": "NM_001289030.2",
"protein_id": "NP_001275959.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 434,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 5306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Pro389Leu",
"transcript": "NM_001289031.1",
"protein_id": "NP_001275960.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 434,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 3313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Pro389Leu",
"transcript": "ENST00000396509.6",
"protein_id": "ENSP00000379766.2",
"transcript_support_level": 2,
"aa_start": 389,
"aa_end": null,
"aa_length": 434,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Pro389Leu",
"transcript": "ENST00000544523.5",
"protein_id": "ENSP00000440312.1",
"transcript_support_level": 2,
"aa_start": 389,
"aa_end": null,
"aa_length": 434,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Pro389Leu",
"transcript": "ENST00000559454.5",
"protein_id": "ENSP00000453133.1",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 434,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"transcript": "NM_001352047.1",
"protein_id": "NP_001338976.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 329,
"cds_start": 851,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"transcript": "NM_001352048.2",
"protein_id": "NP_001338977.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 329,
"cds_start": 851,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000559580.5",
"protein_id": "ENSP00000453257.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 162,
"cds_start": 338,
"cds_end": null,
"cds_length": 489,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Pro64Leu",
"transcript": "ENST00000560528.1",
"protein_id": "ENSP00000452637.1",
"transcript_support_level": 4,
"aa_start": 64,
"aa_end": null,
"aa_length": 109,
"cds_start": 191,
"cds_end": null,
"cds_length": 330,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1283C>T",
"hgvs_p": "p.Pro428Leu",
"transcript": "XM_047432347.1",
"protein_id": "XP_047288303.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 477,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1283C>T",
"hgvs_p": "p.Pro428Leu",
"transcript": "XM_047432348.1",
"protein_id": "XP_047288304.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 477,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Pro413Leu",
"transcript": "XM_006720461.5",
"protein_id": "XP_006720524.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 458,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1205C>T",
"hgvs_p": "p.Pro402Leu",
"transcript": "XM_047432349.1",
"protein_id": "XP_047288305.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 447,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Pro389Leu",
"transcript": "XM_024449892.2",
"protein_id": "XP_024305660.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 438,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Pro389Leu",
"transcript": "XM_047432350.1",
"protein_id": "XP_047288306.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 434,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Pro356Leu",
"transcript": "XM_024449894.2",
"protein_id": "XP_024305662.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 405,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.968C>T",
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8652640581130981,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.586,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0888,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.006,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002044.4",
"gene_symbol": "GALK2",
"hgnc_id": 4119,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Pro413Leu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152647.3",
"gene_symbol": "FAM227B",
"hgnc_id": 26543,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*548G>A",
"hgvs_p": null
}
],
"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
}