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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: 3-49099989-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49099989&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49099989,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005051.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Thr423Ala",
"transcript": "NM_005051.3",
"protein_id": "NP_005042.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 775,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": "ENST00000306125.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005051.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Thr423Ala",
"transcript": "ENST00000306125.12",
"protein_id": "ENSP00000307567.6",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 775,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": "NM_005051.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306125.12"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.832A>G",
"hgvs_p": "p.Thr278Ala",
"transcript": "ENST00000464962.6",
"protein_id": "ENSP00000489011.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 630,
"cds_start": 832,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464962.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1390A>G",
"hgvs_p": "p.Thr464Ala",
"transcript": "ENST00000965966.1",
"protein_id": "ENSP00000636025.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 816,
"cds_start": 1390,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965966.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Thr423Ala",
"transcript": "ENST00000965963.1",
"protein_id": "ENSP00000636022.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 785,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965963.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Thr423Ala",
"transcript": "ENST00000870701.1",
"protein_id": "ENSP00000540760.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 774,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870701.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Thr422Ala",
"transcript": "ENST00000965961.1",
"protein_id": "ENSP00000636020.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 774,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965961.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1234A>G",
"hgvs_p": "p.Thr412Ala",
"transcript": "NM_001272073.2",
"protein_id": "NP_001259002.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 764,
"cds_start": 1234,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272073.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1234A>G",
"hgvs_p": "p.Thr412Ala",
"transcript": "ENST00000414533.5",
"protein_id": "ENSP00000390015.1",
"transcript_support_level": 2,
"aa_start": 412,
"aa_end": null,
"aa_length": 764,
"cds_start": 1234,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414533.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1216A>G",
"hgvs_p": "p.Thr406Ala",
"transcript": "ENST00000965960.1",
"protein_id": "ENSP00000636019.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 758,
"cds_start": 1216,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965960.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1213A>G",
"hgvs_p": "p.Thr405Ala",
"transcript": "ENST00000965967.1",
"protein_id": "ENSP00000636026.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 757,
"cds_start": 1213,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965967.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1195A>G",
"hgvs_p": "p.Thr399Ala",
"transcript": "ENST00000965965.1",
"protein_id": "ENSP00000636024.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 751,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965965.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1081A>G",
"hgvs_p": "p.Thr361Ala",
"transcript": "ENST00000965962.1",
"protein_id": "ENSP00000636021.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 713,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965962.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Thr423Ala",
"transcript": "ENST00000913518.1",
"protein_id": "ENSP00000583577.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 704,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913518.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Thr423Ala",
"transcript": "XM_017006965.3",
"protein_id": "XP_016862454.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 733,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1291,
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.1262+5A>G",
"hgvs_p": null,
"transcript": "ENST00000965968.1",
"protein_id": "ENSP00000636027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 733,
"cds_start": null,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965968.1"
},
{
"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+1366A>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": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.248+5A>G",
"hgvs_p": null,
"transcript": "ENST00000634432.1",
"protein_id": "ENSP00000489118.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634432.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.*915A>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.384A>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.114A>G",
"hgvs_p": null,
"transcript": "ENST00000482468.6",
"protein_id": null,
"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": 402,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482468.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_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": "n.*915A>G",
"hgvs_p": null,
"transcript": "ENST00000636018.1",
"protein_id": "ENSP00000489930.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
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"bayesdelnoaf_score": -0.39,
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"acmg_score": 3,
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{
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"criteria": [
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
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"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}