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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: 14-67143410-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67143410&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 67143410,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000478722.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1797T>C",
"hgvs_p": "p.Asp599Asp",
"transcript": "NM_020806.5",
"protein_id": "NP_065857.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 769,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": "ENST00000478722.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1797T>C",
"hgvs_p": "p.Asp599Asp",
"transcript": "ENST00000478722.6",
"protein_id": "ENSP00000417901.1",
"transcript_support_level": 1,
"aa_start": 599,
"aa_end": null,
"aa_length": 769,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": "NM_020806.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1698T>C",
"hgvs_p": "p.Asp566Asp",
"transcript": "ENST00000315266.9",
"protein_id": "ENSP00000312771.5",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 736,
"cds_start": 1698,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Asp619Asp",
"transcript": "NM_001377514.1",
"protein_id": "NP_001364443.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 789,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1836T>C",
"hgvs_p": "p.Asp612Asp",
"transcript": "ENST00000543237.5",
"protein_id": "ENSP00000438404.1",
"transcript_support_level": 2,
"aa_start": 612,
"aa_end": null,
"aa_length": 782,
"cds_start": 1836,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1827T>C",
"hgvs_p": "p.Asp609Asp",
"transcript": "NM_001377515.1",
"protein_id": "NP_001364444.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 779,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1818T>C",
"hgvs_p": "p.Asp606Asp",
"transcript": "NM_001377516.1",
"protein_id": "NP_001364445.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 776,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Asp590Asp",
"transcript": "NM_001377517.1",
"protein_id": "NP_001364446.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 760,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1755T>C",
"hgvs_p": "p.Asp585Asp",
"transcript": "NM_001377518.1",
"protein_id": "NP_001364447.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 755,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1737T>C",
"hgvs_p": "p.Asp579Asp",
"transcript": "NM_001377519.1",
"protein_id": "NP_001364448.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 749,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1698T>C",
"hgvs_p": "p.Asp566Asp",
"transcript": "NM_001024218.2",
"protein_id": "NP_001019389.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 736,
"cds_start": 1698,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"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": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.273T>C",
"hgvs_p": "p.Asp91Asp",
"transcript": "ENST00000555503.1",
"protein_id": "ENSP00000452009.1",
"transcript_support_level": 3,
"aa_start": 91,
"aa_end": null,
"aa_length": 201,
"cds_start": 273,
"cds_end": null,
"cds_length": 606,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1965T>C",
"hgvs_p": "p.Asp655Asp",
"transcript": "XM_011536340.4",
"protein_id": "XP_011534642.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 825,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1956T>C",
"hgvs_p": "p.Asp652Asp",
"transcript": "XM_017020913.3",
"protein_id": "XP_016876402.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 822,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1926T>C",
"hgvs_p": "p.Asp642Asp",
"transcript": "XM_011536342.4",
"protein_id": "XP_011534644.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 812,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1908T>C",
"hgvs_p": "p.Asp636Asp",
"transcript": "XM_017020914.3",
"protein_id": "XP_016876403.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 806,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1893T>C",
"hgvs_p": "p.Asp631Asp",
"transcript": "XM_011536343.4",
"protein_id": "XP_011534645.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 801,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1869T>C",
"hgvs_p": "p.Asp623Asp",
"transcript": "XM_047430875.1",
"protein_id": "XP_047286831.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 793,
"cds_start": 1869,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1866T>C",
"hgvs_p": "p.Asp622Asp",
"transcript": "XM_011536344.4",
"protein_id": "XP_011534646.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 792,
"cds_start": 1866,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1854T>C",
"hgvs_p": "p.Asp618Asp",
"transcript": "XM_047430876.1",
"protein_id": "XP_047286832.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 788,
"cds_start": 1854,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1836T>C",
"hgvs_p": "p.Asp612Asp",
"transcript": "XM_011536345.4",
"protein_id": "XP_011534647.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 782,
"cds_start": 1836,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 3596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1809T>C",
"hgvs_p": "p.Asp603Asp",
"transcript": "XM_017020917.3",
"protein_id": "XP_016876406.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 773,
"cds_start": 1809,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
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"hgvs_p": "p.Asp598Asp",
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{
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{
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"clinvar_disease": "Hyperekplexia 1,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C|Hyperekplexia 1;Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}