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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: 1-6475991-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6475991&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6475991,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000377728.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "NM_020631.6",
"protein_id": "NP_065682.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1006,
"cds_start": 89,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": "ENST00000377728.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "ENST00000377728.8",
"protein_id": "ENSP00000366957.3",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 1006,
"cds_start": 89,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": "NM_020631.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.200G>T",
"hgvs_p": "p.Arg67Leu",
"transcript": "ENST00000377732.5",
"protein_id": "ENSP00000366961.1",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 1043,
"cds_start": 200,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.200G>T",
"hgvs_p": "p.Arg67Leu",
"transcript": "ENST00000400915.8",
"protein_id": "ENSP00000383706.4",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 1043,
"cds_start": 200,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "ENST00000377740.5",
"protein_id": "ENSP00000366969.4",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 1006,
"cds_start": 89,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "ENST00000377725.5",
"protein_id": "ENSP00000366954.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 930,
"cds_start": 89,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.386G>T",
"hgvs_p": "p.Arg129Leu",
"transcript": "ENST00000673471.2",
"protein_id": "ENSP00000500749.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1105,
"cds_start": 386,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.296G>T",
"hgvs_p": "p.Arg99Leu",
"transcript": "NM_001265593.2",
"protein_id": "NP_001252522.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 1075,
"cds_start": 296,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.296G>T",
"hgvs_p": "p.Arg99Leu",
"transcript": "ENST00000535355.6",
"protein_id": "ENSP00000441445.1",
"transcript_support_level": 2,
"aa_start": 99,
"aa_end": null,
"aa_length": 1075,
"cds_start": 296,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.263G>T",
"hgvs_p": "p.Arg88Leu",
"transcript": "ENST00000377748.6",
"protein_id": "ENSP00000366977.2",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 1064,
"cds_start": 263,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.200G>T",
"hgvs_p": "p.Arg67Leu",
"transcript": "NM_001042663.3",
"protein_id": "NP_001036128.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1043,
"cds_start": 200,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 3719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.200G>T",
"hgvs_p": "p.Arg67Leu",
"transcript": "NM_001265592.2",
"protein_id": "NP_001252521.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1043,
"cds_start": 200,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 3899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.200G>T",
"hgvs_p": "p.Arg67Leu",
"transcript": "ENST00000537245.6",
"protein_id": "ENSP00000439625.2",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 1043,
"cds_start": 200,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "NM_001042664.2",
"protein_id": "NP_001036129.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1006,
"cds_start": 89,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "NM_001042665.2",
"protein_id": "NP_001036130.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1006,
"cds_start": 89,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "NM_198681.4",
"protein_id": "NP_941374.3",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1006,
"cds_start": 89,
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"cdna_start": 901,
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"cdna_length": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "ENST00000340850.10",
"protein_id": "ENSP00000344570.5",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 1006,
"cds_start": 89,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "ENST00000400913.6",
"protein_id": "ENSP00000383704.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 1006,
"cds_start": 89,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "ENST00000675694.1",
"protein_id": "ENSP00000501925.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1006,
"cds_start": 89,
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"cdna_start": 270,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "NM_001265594.3",
"protein_id": "NP_001252523.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 930,
"cds_start": 89,
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"cds_length": 2793,
"cdna_start": 312,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "ENST00000675123.1",
"protein_id": "ENSP00000502132.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 775,
"cds_start": 89,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 176,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Arg30Leu",
"transcript": "ENST00000675093.1",
"protein_id": "ENSP00000502687.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 104,
"cds_start": 89,
"cds_end": null,
"cds_length": 315,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.89G>T",
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}
],
"message": null
}