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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: 3-139348309-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=139348309&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 139348309,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000680020.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.489T>C",
"hgvs_p": "p.Tyr163Tyr",
"transcript": "NM_020191.4",
"protein_id": "NP_064576.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 360,
"cds_start": 489,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": "ENST00000680020.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.489T>C",
"hgvs_p": "p.Tyr163Tyr",
"transcript": "ENST00000680020.1",
"protein_id": "ENSP00000505414.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 360,
"cds_start": 489,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": "NM_020191.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.489T>C",
"hgvs_p": "p.Tyr163Tyr",
"transcript": "ENST00000495075.5",
"protein_id": "ENSP00000418008.1",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 360,
"cds_start": 489,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.486T>C",
"hgvs_p": "p.Tyr162Tyr",
"transcript": "ENST00000310776.9",
"protein_id": "ENSP00000310785.5",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 359,
"cds_start": 486,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "n.503T>C",
"hgvs_p": null,
"transcript": "ENST00000492644.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "n.486T>C",
"hgvs_p": null,
"transcript": "ENST00000498505.5",
"protein_id": "ENSP00000420482.1",
"transcript_support_level": 1,
"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": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.489T>C",
"hgvs_p": "p.Tyr163Tyr",
"transcript": "ENST00000688697.1",
"protein_id": "ENSP00000510396.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 360,
"cds_start": 489,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 5125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.486T>C",
"hgvs_p": "p.Tyr162Tyr",
"transcript": "NM_001363893.1",
"protein_id": "NP_001350822.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 359,
"cds_start": 486,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.489T>C",
"hgvs_p": "p.Tyr163Tyr",
"transcript": "ENST00000686433.1",
"protein_id": "ENSP00000509173.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 342,
"cds_start": 489,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.489T>C",
"hgvs_p": "p.Tyr163Tyr",
"transcript": "ENST00000691070.1",
"protein_id": "ENSP00000509723.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 332,
"cds_start": 489,
"cds_end": null,
"cds_length": 999,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.489T>C",
"hgvs_p": "p.Tyr163Tyr",
"transcript": "ENST00000480644.2",
"protein_id": "ENSP00000420229.2",
"transcript_support_level": 3,
"aa_start": 163,
"aa_end": null,
"aa_length": 329,
"cds_start": 489,
"cds_end": null,
"cds_length": 990,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.366T>C",
"hgvs_p": "p.Tyr122Tyr",
"transcript": "NM_001363857.1",
"protein_id": "NP_001350786.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 319,
"cds_start": 366,
"cds_end": null,
"cds_length": 960,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.279T>C",
"hgvs_p": "p.Tyr93Tyr",
"transcript": "ENST00000478464.6",
"protein_id": "ENSP00000419303.2",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 290,
"cds_start": 279,
"cds_end": null,
"cds_length": 873,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.279T>C",
"hgvs_p": "p.Tyr93Tyr",
"transcript": "ENST00000687538.1",
"protein_id": "ENSP00000508887.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 290,
"cds_start": 279,
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"cdna_start": 913,
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"cdna_length": 4794,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.279T>C",
"hgvs_p": "p.Tyr93Tyr",
"transcript": "ENST00000689286.1",
"protein_id": "ENSP00000509897.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 290,
"cds_start": 279,
"cds_end": null,
"cds_length": 873,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 4677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.108T>C",
"hgvs_p": "p.Tyr36Tyr",
"transcript": "ENST00000684961.1",
"protein_id": "ENSP00000508439.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 233,
"cds_start": 108,
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"cdna_start": 457,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "c.504T>C",
"hgvs_p": "p.Tyr168Tyr",
"transcript": "ENST00000465373.5",
"protein_id": "ENSP00000419920.1",
"transcript_support_level": 3,
"aa_start": 168,
"aa_end": null,
"aa_length": 199,
"cds_start": 504,
"cds_end": null,
"cds_length": 600,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "n.474T>C",
"hgvs_p": null,
"transcript": "ENST00000466690.5",
"protein_id": "ENSP00000419737.1",
"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,
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"cdna_length": 827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "n.489T>C",
"hgvs_p": null,
"transcript": "ENST00000480938.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "n.229T>C",
"hgvs_p": null,
"transcript": "ENST00000483545.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "n.400T>C",
"hgvs_p": null,
"transcript": "ENST00000486705.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "n.279T>C",
"hgvs_p": null,
"transcript": "ENST00000689925.1",
"protein_id": "ENSP00000510082.1",
"transcript_support_level": null,
"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": 4320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS22",
"gene_hgnc_id": 14508,
"hgvs_c": "n.*130T>C",
"hgvs_p": null,
"transcript": "ENST00000690298.1",
"protein_id": "ENSP00000509376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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},
{
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{
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},
{
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}
],
"gene_symbol": "MRPS22",
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.586,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000680020.1",
"gene_symbol": "MRPS22",
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"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.489T>C",
"hgvs_p": "p.Tyr163Tyr"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}