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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: 7-143268144-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=143268144&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 143268144,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001143679.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.591A>C",
"hgvs_p": "p.Leu197Phe",
"transcript": "NM_015917.3",
"protein_id": "NP_057001.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 226,
"cds_start": 591,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358406.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015917.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.591A>C",
"hgvs_p": "p.Leu197Phe",
"transcript": "ENST00000358406.10",
"protein_id": "ENSP00000351181.5",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 226,
"cds_start": 591,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015917.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358406.10"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.759A>C",
"hgvs_p": "p.Leu253Phe",
"transcript": "ENST00000479303.1",
"protein_id": "ENSP00000431049.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 282,
"cds_start": 759,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479303.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.759A>C",
"hgvs_p": "p.Leu253Phe",
"transcript": "NM_001143679.2",
"protein_id": "NP_001137151.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 282,
"cds_start": 759,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143679.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.759A>C",
"hgvs_p": "p.Leu253Phe",
"transcript": "ENST00000881234.1",
"protein_id": "ENSP00000551293.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 281,
"cds_start": 759,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881234.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.756A>C",
"hgvs_p": "p.Leu252Phe",
"transcript": "ENST00000881239.1",
"protein_id": "ENSP00000551298.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 281,
"cds_start": 756,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881239.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.648A>C",
"hgvs_p": "p.Leu216Phe",
"transcript": "ENST00000881235.1",
"protein_id": "ENSP00000551294.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 245,
"cds_start": 648,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881235.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.648A>C",
"hgvs_p": "p.Leu216Phe",
"transcript": "ENST00000881241.1",
"protein_id": "ENSP00000551300.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 245,
"cds_start": 648,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881241.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.642A>C",
"hgvs_p": "p.Leu214Phe",
"transcript": "ENST00000881242.1",
"protein_id": "ENSP00000551301.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 243,
"cds_start": 642,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881242.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.630A>C",
"hgvs_p": "p.Leu210Phe",
"transcript": "ENST00000911357.1",
"protein_id": "ENSP00000581416.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 239,
"cds_start": 630,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911357.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.630A>C",
"hgvs_p": "p.Leu210Phe",
"transcript": "ENST00000881240.1",
"protein_id": "ENSP00000551299.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 238,
"cds_start": 630,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881240.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.588A>C",
"hgvs_p": "p.Leu196Phe",
"transcript": "ENST00000881236.1",
"protein_id": "ENSP00000551295.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 225,
"cds_start": 588,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881236.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.591A>C",
"hgvs_p": "p.Leu197Phe",
"transcript": "ENST00000881237.1",
"protein_id": "ENSP00000551296.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 225,
"cds_start": 591,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881237.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.558A>C",
"hgvs_p": "p.Leu186Phe",
"transcript": "ENST00000881238.1",
"protein_id": "ENSP00000551297.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 215,
"cds_start": 558,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881238.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.558A>C",
"hgvs_p": "p.Leu186Phe",
"transcript": "ENST00000968446.1",
"protein_id": "ENSP00000638505.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 215,
"cds_start": 558,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968446.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.555A>C",
"hgvs_p": "p.Leu185Phe",
"transcript": "NM_001143680.2",
"protein_id": "NP_001137152.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 214,
"cds_start": 555,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143680.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.555A>C",
"hgvs_p": "p.Leu185Phe",
"transcript": "ENST00000409500.7",
"protein_id": "ENSP00000386944.3",
"transcript_support_level": 2,
"aa_start": 185,
"aa_end": null,
"aa_length": 214,
"cds_start": 555,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409500.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.543A>C",
"hgvs_p": "p.Leu181Phe",
"transcript": "ENST00000881233.1",
"protein_id": "ENSP00000551292.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 210,
"cds_start": 543,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881233.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.477A>C",
"hgvs_p": "p.Leu159Phe",
"transcript": "ENST00000968445.1",
"protein_id": "ENSP00000638504.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 188,
"cds_start": 477,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968445.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.462A>C",
"hgvs_p": "p.Leu154Phe",
"transcript": "NM_001143681.2",
"protein_id": "NP_001137153.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 183,
"cds_start": 462,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143681.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.462A>C",
"hgvs_p": "p.Leu154Phe",
"transcript": "ENST00000443571.6",
"protein_id": "ENSP00000415813.2",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 183,
"cds_start": 462,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443571.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTK1",
"gene_hgnc_id": 16906,
"hgvs_c": "c.426A>C",
"hgvs_p": "p.Leu142Phe",
"transcript": "ENST00000968447.1",
"protein_id": "ENSP00000638506.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 171,
"cds_start": 426,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
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{
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{
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{
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{
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}