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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: 8-93815319-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=93815319&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 93815319,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000453321.8",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2779T>C",
"hgvs_p": "p.Phe927Leu",
"transcript": "NM_153704.6",
"protein_id": "NP_714915.3",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 995,
"cds_start": 2779,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 4678,
"mane_select": "ENST00000453321.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2779T>C",
"hgvs_p": "p.Phe927Leu",
"transcript": "ENST00000453321.8",
"protein_id": "ENSP00000389998.3",
"transcript_support_level": 1,
"aa_start": 927,
"aa_end": null,
"aa_length": 995,
"cds_start": 2779,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 4678,
"mane_select": "NM_153704.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2662T>C",
"hgvs_p": "p.Phe888Leu",
"transcript": "ENST00000452276.6",
"protein_id": "ENSP00000388671.2",
"transcript_support_level": 1,
"aa_start": 888,
"aa_end": null,
"aa_length": 956,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2902T>C",
"hgvs_p": "p.Phe968Leu",
"transcript": "ENST00000520680.2",
"protein_id": "ENSP00000428785.2",
"transcript_support_level": 3,
"aa_start": 968,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2902,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 2907,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2734T>C",
"hgvs_p": "p.Phe912Leu",
"transcript": "ENST00000409623.8",
"protein_id": "ENSP00000386966.4",
"transcript_support_level": 2,
"aa_start": 912,
"aa_end": null,
"aa_length": 980,
"cds_start": 2734,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 2750,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2680T>C",
"hgvs_p": "p.Phe894Leu",
"transcript": "ENST00000521517.6",
"protein_id": "ENSP00000430740.2",
"transcript_support_level": 5,
"aa_start": 894,
"aa_end": null,
"aa_length": 962,
"cds_start": 2680,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2680,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2536T>C",
"hgvs_p": "p.Phe846Leu",
"transcript": "NM_001142301.1",
"protein_id": "NP_001135773.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 914,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2470T>C",
"hgvs_p": "p.Phe824Leu",
"transcript": "ENST00000684064.1",
"protein_id": "ENSP00000508192.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 892,
"cds_start": 2470,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2440T>C",
"hgvs_p": "p.Phe814Leu",
"transcript": "ENST00000683362.1",
"protein_id": "ENSP00000506985.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 882,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2020T>C",
"hgvs_p": "p.Phe674Leu",
"transcript": "ENST00000682036.1",
"protein_id": "ENSP00000508390.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 742,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.1897T>C",
"hgvs_p": "p.Phe633Leu",
"transcript": "ENST00000453906.6",
"protein_id": "ENSP00000403035.2",
"transcript_support_level": 5,
"aa_start": 633,
"aa_end": null,
"aa_length": 701,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.976T>C",
"hgvs_p": "p.Phe326Leu",
"transcript": "ENST00000519845.5",
"protein_id": "ENSP00000507620.1",
"transcript_support_level": 2,
"aa_start": 326,
"aa_end": null,
"aa_length": 394,
"cds_start": 976,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.976T>C",
"hgvs_p": "p.Phe326Leu",
"transcript": "ENST00000684343.1",
"protein_id": "ENSP00000507591.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 394,
"cds_start": 976,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2476T>C",
"hgvs_p": "p.Phe826Leu",
"transcript": "XM_006716686.5",
"protein_id": "XP_006716749.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 894,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2711,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.2125T>C",
"hgvs_p": "p.Phe709Leu",
"transcript": "XM_047422409.1",
"protein_id": "XP_047278365.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 777,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.1897T>C",
"hgvs_p": "p.Phe633Leu",
"transcript": "XM_011517363.4",
"protein_id": "XP_011515665.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 701,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.1594T>C",
"hgvs_p": "p.Phe532Leu",
"transcript": "XM_047422410.1",
"protein_id": "XP_047278366.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 600,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.2779T>C",
"hgvs_p": null,
"transcript": "ENST00000323130.8",
"protein_id": "ENSP00000314488.4",
"transcript_support_level": 2,
"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": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.*899T>C",
"hgvs_p": null,
"transcript": "ENST00000518896.2",
"protein_id": "ENSP00000507992.1",
"transcript_support_level": 4,
"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": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.*2006T>C",
"hgvs_p": null,
"transcript": "ENST00000681998.1",
"protein_id": "ENSP00000506773.1",
"transcript_support_level": null,
"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": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.*1958T>C",
"hgvs_p": null,
"transcript": "ENST00000682577.1",
"protein_id": "ENSP00000506963.1",
"transcript_support_level": null,
"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": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.*2353T>C",
"hgvs_p": null,
"transcript": "ENST00000682624.1",
"protein_id": "ENSP00000508343.1",
"transcript_support_level": null,
"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": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
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}
],
"message": null
}