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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: 14-96847277-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=96847277&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 96847277,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003384.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "NM_003384.3",
"protein_id": "NP_003375.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 396,
"cds_start": 307,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": "ENST00000216639.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000216639.8",
"protein_id": "ENSP00000216639.3",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 396,
"cds_start": 307,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": "NM_003384.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.-78C>T",
"hgvs_p": null,
"transcript": "ENST00000557222.6",
"protein_id": "ENSP00000450820.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": -4,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000679770.1",
"protein_id": "ENSP00000505214.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 448,
"cds_start": 307,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000679462.1",
"protein_id": "ENSP00000506011.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 437,
"cds_start": 307,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "NM_001411051.1",
"protein_id": "NP_001397980.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 420,
"cds_start": 307,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000553683.2",
"protein_id": "ENSP00000451412.2",
"transcript_support_level": 3,
"aa_start": 103,
"aa_end": null,
"aa_length": 420,
"cds_start": 307,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000679918.1",
"protein_id": "ENSP00000505439.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 420,
"cds_start": 307,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000680007.1",
"protein_id": "ENSP00000505683.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 420,
"cds_start": 307,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000680683.1",
"protein_id": "ENSP00000506334.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 403,
"cds_start": 307,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000679816.1",
"protein_id": "ENSP00000506525.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 396,
"cds_start": 307,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000680756.1",
"protein_id": "ENSP00000506648.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 396,
"cds_start": 307,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000681344.1",
"protein_id": "ENSP00000506151.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 396,
"cds_start": 307,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000681355.1",
"protein_id": "ENSP00000506214.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
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"cds_start": 307,
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"cdna_start": 527,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "NM_001411053.1",
"protein_id": "NP_001397982.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 395,
"cds_start": 307,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000680724.1",
"protein_id": "ENSP00000504891.1",
"transcript_support_level": null,
"aa_start": 103,
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"cdna_start": 312,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Arg102Cys",
"transcript": "ENST00000680849.1",
"protein_id": "ENSP00000505602.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 395,
"cds_start": 304,
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"cdna_start": 352,
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"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000680851.1",
"protein_id": "ENSP00000505159.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 395,
"cds_start": 307,
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"cds_length": 1188,
"cdna_start": 312,
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"cdna_length": 1511,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000681195.1",
"protein_id": "ENSP00000504933.1",
"transcript_support_level": null,
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"aa_end": null,
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"feature": null
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000681249.1",
"protein_id": "ENSP00000506013.1",
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"aa_start": 103,
"aa_end": null,
"aa_length": 395,
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"cds_end": null,
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"cdna_start": 1270,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000557352.2",
"protein_id": "ENSP00000451682.2",
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"aa_start": 103,
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"cds_start": 307,
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"cdna_start": 372,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000679727.1",
"protein_id": "ENSP00000505844.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 394,
"cds_start": 307,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK1",
"gene_hgnc_id": 12718,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Cys",
"transcript": "ENST00000681493.1",
"protein_id": "ENSP00000506429.1",
"transcript_support_level": null,
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"clinvar_disease": "Congenital pontocerebellar hypoplasia type 1,Inborn genetic diseases,Pontocerebellar hypoplasia type 1A",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Congenital pontocerebellar hypoplasia type 1|Inborn genetic diseases|Pontocerebellar hypoplasia type 1A",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}