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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: 6-165418735-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=165418735&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 165418735,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000539869.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.1696T>C",
"hgvs_p": "p.Phe566Leu",
"transcript": "NM_001385079.1",
"protein_id": "NP_001372008.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1696,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 9334,
"mane_select": "ENST00000539869.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.1696T>C",
"hgvs_p": "p.Phe566Leu",
"transcript": "ENST00000539869.4",
"protein_id": "ENSP00000438284.3",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1696,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 9334,
"mane_select": "NM_001385079.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.1072T>C",
"hgvs_p": "p.Phe358Leu",
"transcript": "ENST00000647768.3",
"protein_id": "ENSP00000497930.3",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 847,
"cds_start": 1072,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.949T>C",
"hgvs_p": "p.Phe317Leu",
"transcript": "ENST00000672902.1",
"protein_id": "ENSP00000500351.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 820,
"cds_start": 949,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 8682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.949T>C",
"hgvs_p": "p.Phe317Leu",
"transcript": "ENST00000672859.1",
"protein_id": "ENSP00000500900.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 806,
"cds_start": 949,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.937T>C",
"hgvs_p": "p.Phe313Leu",
"transcript": "ENST00000676766.1",
"protein_id": "ENSP00000504611.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 802,
"cds_start": 937,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 4774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.904T>C",
"hgvs_p": "p.Phe302Leu",
"transcript": "ENST00000648917.1",
"protein_id": "ENSP00000497277.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 791,
"cds_start": 904,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 8563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.898T>C",
"hgvs_p": "p.Phe300Leu",
"transcript": "NM_001130690.3",
"protein_id": "NP_001124162.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 789,
"cds_start": 898,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 8373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.868T>C",
"hgvs_p": "p.Phe290Leu",
"transcript": "NM_006661.4",
"protein_id": "NP_006652.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 779,
"cds_start": 868,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 8501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.847T>C",
"hgvs_p": "p.Phe283Leu",
"transcript": "ENST00000647590.1",
"protein_id": "ENSP00000497062.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 772,
"cds_start": 847,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 8158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.658T>C",
"hgvs_p": "p.Phe220Leu",
"transcript": "ENST00000648884.1",
"protein_id": "ENSP00000497392.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 709,
"cds_start": 658,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 8652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.46T>C",
"hgvs_p": "p.Phe16Leu",
"transcript": "ENST00000366882.7",
"protein_id": "ENSP00000355847.3",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 505,
"cds_start": 46,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 8272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.1024T>C",
"hgvs_p": "p.Phe342Leu",
"transcript": "XM_011535387.4",
"protein_id": "XP_011533689.2",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 831,
"cds_start": 1024,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 3036,
"cdna_end": null,
"cdna_length": 10244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.1024T>C",
"hgvs_p": "p.Phe342Leu",
"transcript": "XM_017010194.3",
"protein_id": "XP_016865683.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 800,
"cds_start": 1024,
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"cdna_start": 3036,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.868T>C",
"hgvs_p": "p.Phe290Leu",
"transcript": "XM_011535388.4",
"protein_id": "XP_011533690.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 779,
"cds_start": 868,
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"cds_length": 2340,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 8437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.868T>C",
"hgvs_p": "p.Phe290Leu",
"transcript": "XM_047418098.1",
"protein_id": "XP_047274054.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
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"cds_start": 868,
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"cdna_start": 1211,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.868T>C",
"hgvs_p": "p.Phe290Leu",
"transcript": "XM_047418099.1",
"protein_id": "XP_047274055.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 779,
"cds_start": 868,
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"cds_length": 2340,
"cdna_start": 7213,
"cdna_end": null,
"cdna_length": 14421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.847T>C",
"hgvs_p": "p.Phe283Leu",
"transcript": "XM_006715321.5",
"protein_id": "XP_006715384.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 772,
"cds_start": 847,
"cds_end": null,
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"cdna_start": 1101,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.727T>C",
"hgvs_p": "p.Phe243Leu",
"transcript": "XM_017010195.3",
"protein_id": "XP_016865684.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
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"cds_start": 727,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.727T>C",
"hgvs_p": "p.Phe243Leu",
"transcript": "XM_047418100.1",
"protein_id": "XP_047274056.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 732,
"cds_start": 727,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.658T>C",
"hgvs_p": "p.Phe220Leu",
"transcript": "XM_047418101.1",
"protein_id": "XP_047274057.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 709,
"cds_start": 658,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 8028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.1024T>C",
"hgvs_p": "p.Phe342Leu",
"transcript": "XM_017010197.3",
"protein_id": "XP_016865686.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 631,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 3036,
"cdna_end": null,
"cdna_length": 6312,
"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": 12,
"exon_rank_end": null,
"exon_count": 23,
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"computational_prediction_selected": "Pathogenic",
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"bayesdelnoaf_prediction": "Uncertain_significance",
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],
"clinvar_disease": " autosomal dominant 2,Striatal degeneration,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Striatal degeneration, autosomal dominant 2|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}