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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: 8-38267329-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38267329&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38267329,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000424479.7",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Cys134Tyr",
"transcript": "NM_001102559.2",
"protein_id": "NP_001096029.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 264,
"cds_start": 401,
"cds_end": null,
"cds_length": 795,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": "ENST00000424479.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Cys134Tyr",
"transcript": "ENST00000424479.7",
"protein_id": "ENSP00000392553.2",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 264,
"cds_start": 401,
"cds_end": null,
"cds_length": 795,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": "NM_001102559.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.278G>A",
"hgvs_p": "p.Cys93Tyr",
"transcript": "ENST00000529359.5",
"protein_id": "ENSP00000434916.1",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 223,
"cds_start": 278,
"cds_end": null,
"cds_length": 672,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Cys134Tyr",
"transcript": "ENST00000422581.6",
"protein_id": "ENSP00000390622.2",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 216,
"cds_start": 401,
"cds_end": null,
"cds_length": 651,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Cys116Tyr",
"transcript": "NM_001354452.2",
"protein_id": "NP_001341381.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Cys163Tyr",
"transcript": "NM_001354454.2",
"protein_id": "NP_001341383.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 245,
"cds_start": 488,
"cds_end": null,
"cds_length": 738,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Cys115Tyr",
"transcript": "ENST00000524616.5",
"protein_id": "ENSP00000432122.1",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 245,
"cds_start": 344,
"cds_end": null,
"cds_length": 738,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Cys127Tyr",
"transcript": "ENST00000534339.5",
"protein_id": "ENSP00000431771.1",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 243,
"cds_start": 380,
"cds_end": null,
"cds_length": 732,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.278G>A",
"hgvs_p": "p.Cys93Tyr",
"transcript": "NM_001410920.1",
"protein_id": "NP_001397849.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 223,
"cds_start": 278,
"cds_end": null,
"cds_length": 672,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Cys134Tyr",
"transcript": "NM_001354456.2",
"protein_id": "NP_001341385.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 221,
"cds_start": 401,
"cds_end": null,
"cds_length": 666,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Cys134Tyr",
"transcript": "NM_032483.4",
"protein_id": "NP_115872.2",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 216,
"cds_start": 401,
"cds_end": null,
"cds_length": 651,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Cys134Tyr",
"transcript": "NM_001102560.2",
"protein_id": "NP_001096030.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 176,
"cds_start": 401,
"cds_end": null,
"cds_length": 531,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Cys134Tyr",
"transcript": "ENST00000419686.2",
"protein_id": "ENSP00000414522.2",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 176,
"cds_start": 401,
"cds_end": null,
"cds_length": 531,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "NM_001354458.2",
"protein_id": "NP_001341387.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 132,
"cds_start": 5,
"cds_end": null,
"cds_length": 399,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "NM_001354459.2",
"protein_id": "NP_001341388.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 132,
"cds_start": 5,
"cds_end": null,
"cds_length": 399,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "ENST00000531823.5",
"protein_id": "ENSP00000437248.1",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 132,
"cds_start": 5,
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"cds_length": 399,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Cys163Tyr",
"transcript": "XM_024447307.2",
"protein_id": "XP_024303075.2",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 293,
"cds_start": 488,
"cds_end": null,
"cds_length": 882,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Cys77Tyr",
"transcript": "XM_011544672.3",
"protein_id": "XP_011542974.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 207,
"cds_start": 230,
"cds_end": null,
"cds_length": 624,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.278G>A",
"hgvs_p": "p.Cys93Tyr",
"transcript": "XM_047422321.1",
"protein_id": "XP_047278277.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 175,
"cds_start": 278,
"cds_end": null,
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"cdna_start": 470,
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"cdna_length": 914,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Cys77Tyr",
"transcript": "XM_047422323.1",
"protein_id": "XP_047278279.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 164,
"cds_start": 230,
"cds_end": null,
"cds_length": 495,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "XM_024447306.2",
"protein_id": "XP_024303074.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 132,
"cds_start": 5,
"cds_end": null,
"cds_length": 399,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "n.244G>A",
"hgvs_p": null,
"transcript": "ENST00000527793.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "PLPP5",
"gene_hgnc_id": 25026,
"hgvs_c": "n.1262G>A",
"hgvs_p": null,
"transcript": "ENST00000528814.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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{
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],
"clinvar_disease": "not specified",
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}