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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: 3-49100061-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49100061&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "QARS1",
"hgnc_id": 9751,
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Glu399Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_005051.3",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "MIR6890",
"hgnc_id": 49990,
"hgvs_c": "n.-147G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "NR_106950.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 312,
"alphamissense_prediction": null,
"alphamissense_score": 0.1618,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19648128747940063,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 775,
"aa_ref": "E",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_005051.3",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Glu399Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306125.12",
"protein_coding": true,
"protein_id": "NP_005042.1",
"strand": false,
"transcript": "NM_005051.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 775,
"aa_ref": "E",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000306125.12",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Glu399Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005051.3",
"protein_coding": true,
"protein_id": "ENSP00000307567.6",
"strand": false,
"transcript": "ENST00000306125.12",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 630,
"aa_ref": "E",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 1893,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000464962.6",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Glu254Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489011.1",
"strand": false,
"transcript": "ENST00000464962.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 816,
"aa_ref": "E",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1318,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965966.1",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1318G>A",
"hgvs_p": "p.Glu440Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636025.1",
"strand": false,
"transcript": "ENST00000965966.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 785,
"aa_ref": "E",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 2358,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965963.1",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Glu399Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636022.1",
"strand": false,
"transcript": "ENST00000965963.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 774,
"aa_ref": "E",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2441,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 2325,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000870701.1",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Glu399Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540760.1",
"strand": false,
"transcript": "ENST00000870701.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 774,
"aa_ref": "E",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 2325,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965961.1",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Glu398Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636020.1",
"strand": false,
"transcript": "ENST00000965961.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 764,
"aa_ref": "E",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001272073.2",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001259002.1",
"strand": false,
"transcript": "NM_001272073.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 764,
"aa_ref": "E",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000414533.5",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390015.1",
"strand": false,
"transcript": "ENST00000414533.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 758,
"aa_ref": "E",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1144,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965960.1",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636019.1",
"strand": false,
"transcript": "ENST00000965960.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 757,
"aa_ref": "E",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965967.1",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1141G>A",
"hgvs_p": "p.Glu381Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636026.1",
"strand": false,
"transcript": "ENST00000965967.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 751,
"aa_ref": "E",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2374,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1123,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965965.1",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Glu375Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636024.1",
"strand": false,
"transcript": "ENST00000965965.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 733,
"aa_ref": "E",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 2202,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965968.1",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Glu399Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636027.1",
"strand": false,
"transcript": "ENST00000965968.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 713,
"aa_ref": "E",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000965962.1",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Glu337Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636021.1",
"strand": false,
"transcript": "ENST00000965962.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 704,
"aa_ref": "E",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000913518.1",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Glu399Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583577.1",
"strand": false,
"transcript": "ENST00000913518.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 192,
"aa_ref": "E",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": 182,
"cds_end": null,
"cds_length": 581,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000634432.1",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Glu61Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489118.1",
"strand": false,
"transcript": "ENST00000634432.1",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 733,
"aa_ref": "E",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 2202,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017006965.3",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Glu399Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862454.2",
"strand": false,
"transcript": "XM_017006965.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1045,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965964.1",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "c.876+1294G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636023.1",
"strand": false,
"transcript": "ENST00000965964.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000430182.5",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "n.*843G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389823.1",
"strand": false,
"transcript": "ENST00000430182.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000478561.5",
"gene_hgnc_id": 9751,
"gene_symbol": "QARS1",
"hgvs_c": "n.312G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000478561.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
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