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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: 3-49100191-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49100191&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49100191,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_005051.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1163A>G",
"hgvs_p": "p.Glu388Gly",
"transcript": "NM_005051.3",
"protein_id": "NP_005042.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 775,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": "ENST00000306125.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005051.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1163A>G",
"hgvs_p": "p.Glu388Gly",
"transcript": "ENST00000306125.12",
"protein_id": "ENSP00000307567.6",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 775,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": "NM_005051.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306125.12"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Glu243Gly",
"transcript": "ENST00000464962.6",
"protein_id": "ENSP00000489011.1",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 630,
"cds_start": 728,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464962.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1286A>G",
"hgvs_p": "p.Glu429Gly",
"transcript": "ENST00000965966.1",
"protein_id": "ENSP00000636025.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 816,
"cds_start": 1286,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965966.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1163A>G",
"hgvs_p": "p.Glu388Gly",
"transcript": "ENST00000965963.1",
"protein_id": "ENSP00000636022.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 785,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965963.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1163A>G",
"hgvs_p": "p.Glu388Gly",
"transcript": "ENST00000870701.1",
"protein_id": "ENSP00000540760.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 774,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870701.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Glu387Gly",
"transcript": "ENST00000965961.1",
"protein_id": "ENSP00000636020.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 774,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965961.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1130A>G",
"hgvs_p": "p.Glu377Gly",
"transcript": "NM_001272073.2",
"protein_id": "NP_001259002.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 764,
"cds_start": 1130,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272073.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1130A>G",
"hgvs_p": "p.Glu377Gly",
"transcript": "ENST00000414533.5",
"protein_id": "ENSP00000390015.1",
"transcript_support_level": 2,
"aa_start": 377,
"aa_end": null,
"aa_length": 764,
"cds_start": 1130,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414533.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1112A>G",
"hgvs_p": "p.Glu371Gly",
"transcript": "ENST00000965960.1",
"protein_id": "ENSP00000636019.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 758,
"cds_start": 1112,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965960.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1109A>G",
"hgvs_p": "p.Glu370Gly",
"transcript": "ENST00000965967.1",
"protein_id": "ENSP00000636026.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 757,
"cds_start": 1109,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965967.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1091A>G",
"hgvs_p": "p.Glu364Gly",
"transcript": "ENST00000965965.1",
"protein_id": "ENSP00000636024.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 751,
"cds_start": 1091,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965965.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1163A>G",
"hgvs_p": "p.Glu388Gly",
"transcript": "ENST00000965968.1",
"protein_id": "ENSP00000636027.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 733,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965968.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.977A>G",
"hgvs_p": "p.Glu326Gly",
"transcript": "ENST00000965962.1",
"protein_id": "ENSP00000636021.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 713,
"cds_start": 977,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965962.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1163A>G",
"hgvs_p": "p.Glu388Gly",
"transcript": "ENST00000913518.1",
"protein_id": "ENSP00000583577.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 704,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913518.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Glu50Gly",
"transcript": "ENST00000634432.1",
"protein_id": "ENSP00000489118.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 192,
"cds_start": 149,
"cds_end": null,
"cds_length": 581,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634432.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1163A>G",
"hgvs_p": "p.Glu388Gly",
"transcript": "XM_017006965.3",
"protein_id": "XP_016862454.2",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 733,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006965.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.876+1164A>G",
"hgvs_p": null,
"transcript": "ENST00000965964.1",
"protein_id": "ENSP00000636023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965964.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.*811A>G",
"hgvs_p": null,
"transcript": "ENST00000430182.5",
"protein_id": "ENSP00000389823.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000430182.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.280A>G",
"hgvs_p": null,
"transcript": "ENST00000478561.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 670,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478561.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.950A>G",
"hgvs_p": null,
"transcript": "ENST00000494838.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494838.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
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{
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],
"gene_symbol": "QARS1",
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"dbsnp": "rs777424712",
"frequency_reference_population": 0.00007248747,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.0000766135,
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"gnomad_genomes_ac": 5,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8917328119277954,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9980000257492065,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.616,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2056,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.445,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.61,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999980094812476,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005051.3",
"gene_symbol": "QARS1",
"hgnc_id": 9751,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1163A>G",
"hgvs_p": "p.Glu388Gly"
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],
"clinvar_disease": "Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}