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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: 14-67165222-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67165222&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 67165222,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000478722.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1971A>C",
"hgvs_p": "p.Leu657Leu",
"transcript": "NM_020806.5",
"protein_id": "NP_065857.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 769,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": "ENST00000478722.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1971A>C",
"hgvs_p": "p.Leu657Leu",
"transcript": "ENST00000478722.6",
"protein_id": "ENSP00000417901.1",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 769,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": "NM_020806.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1872A>C",
"hgvs_p": "p.Leu624Leu",
"transcript": "ENST00000315266.9",
"protein_id": "ENSP00000312771.5",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 736,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2031A>C",
"hgvs_p": "p.Leu677Leu",
"transcript": "NM_001377514.1",
"protein_id": "NP_001364443.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 789,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2010A>C",
"hgvs_p": "p.Leu670Leu",
"transcript": "ENST00000543237.5",
"protein_id": "ENSP00000438404.1",
"transcript_support_level": 2,
"aa_start": 670,
"aa_end": null,
"aa_length": 782,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2034,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2001A>C",
"hgvs_p": "p.Leu667Leu",
"transcript": "NM_001377515.1",
"protein_id": "NP_001364444.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 779,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2382,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1992A>C",
"hgvs_p": "p.Leu664Leu",
"transcript": "NM_001377516.1",
"protein_id": "NP_001364445.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 776,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1944A>C",
"hgvs_p": "p.Leu648Leu",
"transcript": "NM_001377517.1",
"protein_id": "NP_001364446.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 760,
"cds_start": 1944,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1929A>C",
"hgvs_p": "p.Leu643Leu",
"transcript": "NM_001377518.1",
"protein_id": "NP_001364447.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 755,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1911A>C",
"hgvs_p": "p.Leu637Leu",
"transcript": "NM_001377519.1",
"protein_id": "NP_001364448.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 749,
"cds_start": 1911,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2292,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1872A>C",
"hgvs_p": "p.Leu624Leu",
"transcript": "NM_001024218.2",
"protein_id": "NP_001019389.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 736,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.447A>C",
"hgvs_p": "p.Leu149Leu",
"transcript": "ENST00000555503.1",
"protein_id": "ENSP00000452009.1",
"transcript_support_level": 3,
"aa_start": 149,
"aa_end": null,
"aa_length": 201,
"cds_start": 447,
"cds_end": null,
"cds_length": 606,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2139A>C",
"hgvs_p": "p.Leu713Leu",
"transcript": "XM_011536340.4",
"protein_id": "XP_011534642.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 825,
"cds_start": 2139,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2130A>C",
"hgvs_p": "p.Leu710Leu",
"transcript": "XM_017020913.3",
"protein_id": "XP_016876402.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 822,
"cds_start": 2130,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2100A>C",
"hgvs_p": "p.Leu700Leu",
"transcript": "XM_011536342.4",
"protein_id": "XP_011534644.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 812,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2481,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2082A>C",
"hgvs_p": "p.Leu694Leu",
"transcript": "XM_017020914.3",
"protein_id": "XP_016876403.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 806,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2463,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2067A>C",
"hgvs_p": "p.Leu689Leu",
"transcript": "XM_011536343.4",
"protein_id": "XP_011534645.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 801,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2448,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2043A>C",
"hgvs_p": "p.Leu681Leu",
"transcript": "XM_047430875.1",
"protein_id": "XP_047286831.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 793,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2040A>C",
"hgvs_p": "p.Leu680Leu",
"transcript": "XM_011536344.4",
"protein_id": "XP_011534646.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 792,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2028A>C",
"hgvs_p": "p.Leu676Leu",
"transcript": "XM_047430876.1",
"protein_id": "XP_047286832.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 788,
"cds_start": 2028,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2010A>C",
"hgvs_p": "p.Leu670Leu",
"transcript": "XM_011536345.4",
"protein_id": "XP_011534647.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 782,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 3596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1983A>C",
"hgvs_p": "p.Leu661Leu",
"transcript": "XM_017020917.3",
"protein_id": "XP_016876406.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 773,
"cds_start": 1983,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
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{
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"verdict": "Benign",
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"inheritance_mode": "AD,AR",
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{
"score": -10,
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"verdict": "Benign",
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"effects": [
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"inheritance_mode": "",
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{
"score": -10,
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"gene_symbol": "LOC105370538",
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"effects": [
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"inheritance_mode": "",
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],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C|GPHN-related disorder|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}