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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: 8-93815341-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=93815341&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 93815341,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_153704.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"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.2801G>A",
"hgvs_p": "p.Gly934Glu",
"transcript": "NM_153704.6",
"protein_id": "NP_714915.3",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 995,
"cds_start": 2801,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000453321.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153704.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.2801G>A",
"hgvs_p": "p.Gly934Glu",
"transcript": "ENST00000453321.8",
"protein_id": "ENSP00000389998.3",
"transcript_support_level": 1,
"aa_start": 934,
"aa_end": null,
"aa_length": 995,
"cds_start": 2801,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153704.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453321.8"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.2684G>A",
"hgvs_p": "p.Gly895Glu",
"transcript": "ENST00000452276.6",
"protein_id": "ENSP00000388671.2",
"transcript_support_level": 1,
"aa_start": 895,
"aa_end": null,
"aa_length": 956,
"cds_start": 2684,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452276.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.2924G>A",
"hgvs_p": "p.Gly975Glu",
"transcript": "ENST00000520680.2",
"protein_id": "ENSP00000428785.2",
"transcript_support_level": 3,
"aa_start": 975,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520680.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.2756G>A",
"hgvs_p": "p.Gly919Glu",
"transcript": "ENST00000409623.8",
"protein_id": "ENSP00000386966.4",
"transcript_support_level": 2,
"aa_start": 919,
"aa_end": null,
"aa_length": 980,
"cds_start": 2756,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409623.8"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.2702G>A",
"hgvs_p": "p.Gly901Glu",
"transcript": "ENST00000521517.6",
"protein_id": "ENSP00000430740.2",
"transcript_support_level": 5,
"aa_start": 901,
"aa_end": null,
"aa_length": 962,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521517.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.2558G>A",
"hgvs_p": "p.Gly853Glu",
"transcript": "NM_001142301.1",
"protein_id": "NP_001135773.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 914,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142301.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.2492G>A",
"hgvs_p": "p.Gly831Glu",
"transcript": "ENST00000684064.1",
"protein_id": "ENSP00000508192.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 892,
"cds_start": 2492,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684064.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.2462G>A",
"hgvs_p": "p.Gly821Glu",
"transcript": "ENST00000683362.1",
"protein_id": "ENSP00000506985.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 882,
"cds_start": 2462,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683362.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.2042G>A",
"hgvs_p": "p.Gly681Glu",
"transcript": "ENST00000682036.1",
"protein_id": "ENSP00000508390.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 742,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682036.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.1919G>A",
"hgvs_p": "p.Gly640Glu",
"transcript": "ENST00000453906.6",
"protein_id": "ENSP00000403035.2",
"transcript_support_level": 5,
"aa_start": 640,
"aa_end": null,
"aa_length": 701,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453906.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.998G>A",
"hgvs_p": "p.Gly333Glu",
"transcript": "ENST00000519845.5",
"protein_id": "ENSP00000507620.1",
"transcript_support_level": 2,
"aa_start": 333,
"aa_end": null,
"aa_length": 394,
"cds_start": 998,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519845.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.998G>A",
"hgvs_p": "p.Gly333Glu",
"transcript": "ENST00000684343.1",
"protein_id": "ENSP00000507591.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 394,
"cds_start": 998,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684343.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.2498G>A",
"hgvs_p": "p.Gly833Glu",
"transcript": "XM_006716686.5",
"protein_id": "XP_006716749.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 894,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716686.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.2147G>A",
"hgvs_p": "p.Gly716Glu",
"transcript": "XM_047422409.1",
"protein_id": "XP_047278365.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 777,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422409.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.1919G>A",
"hgvs_p": "p.Gly640Glu",
"transcript": "XM_011517363.4",
"protein_id": "XP_011515665.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 701,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517363.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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.1616G>A",
"hgvs_p": "p.Gly539Glu",
"transcript": "XM_047422410.1",
"protein_id": "XP_047278366.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 600,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422410.1"
},
{
"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.2801G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000323130.8"
},
{
"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.*921G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518896.2"
},
{
"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.*2028G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681998.1"
},
{
"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.*1980G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682577.1"
},
{
"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.*2375G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"phenotype_combined": "Joubert syndrome 6",
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}
],
"message": null
}