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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: 1-241885378-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=241885378&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 241885378,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000366548.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2276G>T",
"hgvs_p": "p.Gly759Val",
"transcript": "NM_130398.4",
"protein_id": "NP_569082.2",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 846,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2845,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": "ENST00000366548.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2276G>T",
"hgvs_p": "p.Gly759Val",
"transcript": "ENST00000366548.8",
"protein_id": "ENSP00000355506.3",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 846,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2845,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": "NM_130398.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2276G>T",
"hgvs_p": "p.Gly759Val",
"transcript": "ENST00000348581.9",
"protein_id": "ENSP00000311873.5",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 846,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2590,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2276G>T",
"hgvs_p": "p.Gly759Val",
"transcript": "ENST00000518483.5",
"protein_id": "ENSP00000430251.1",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 803,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2490,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2276G>T",
"hgvs_p": "p.Gly759Val",
"transcript": "NM_006027.4",
"protein_id": "NP_006018.4",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 846,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2590,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2273G>T",
"hgvs_p": "p.Gly758Val",
"transcript": "NM_001319224.2",
"protein_id": "NP_001306153.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 845,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2737,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2276G>T",
"hgvs_p": "p.Gly759Val",
"transcript": "NM_003686.4",
"protein_id": "NP_003677.4",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 803,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2590,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.368G>T",
"hgvs_p": "p.Gly123Val",
"transcript": "ENST00000521202.2",
"protein_id": "ENSP00000428326.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 206,
"cds_start": 368,
"cds_end": null,
"cds_length": 622,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2276G>T",
"hgvs_p": "p.Gly759Val",
"transcript": "XM_006711840.3",
"protein_id": "XP_006711903.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 846,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2848,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2276G>T",
"hgvs_p": "p.Gly759Val",
"transcript": "XM_011544321.3",
"protein_id": "XP_011542623.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 846,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2276G>T",
"hgvs_p": "p.Gly759Val",
"transcript": "XM_011544322.2",
"protein_id": "XP_011542624.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 846,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2805,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2276G>T",
"hgvs_p": "p.Gly759Val",
"transcript": "XM_047434104.1",
"protein_id": "XP_047290060.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 846,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2913,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2276G>T",
"hgvs_p": "p.Gly759Val",
"transcript": "XM_047434106.1",
"protein_id": "XP_047290062.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 846,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2910,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2273G>T",
"hgvs_p": "p.Gly758Val",
"transcript": "XM_011544323.3",
"protein_id": "XP_011542625.1",
"transcript_support_level": null,
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"cds_start": 2273,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2273G>T",
"hgvs_p": "p.Gly758Val",
"transcript": "XM_047434107.1",
"protein_id": "XP_047290063.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 845,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2273G>T",
"hgvs_p": "p.Gly758Val",
"transcript": "XM_047434108.1",
"protein_id": "XP_047290064.1",
"transcript_support_level": null,
"aa_start": 758,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2273G>T",
"hgvs_p": "p.Gly758Val",
"transcript": "XM_047434112.1",
"protein_id": "XP_047290068.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 845,
"cds_start": 2273,
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"cds_length": 2538,
"cdna_start": 2910,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2156G>T",
"hgvs_p": "p.Gly719Val",
"transcript": "XM_011544324.3",
"protein_id": "XP_011542626.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 806,
"cds_start": 2156,
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"cds_length": 2421,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2156G>T",
"hgvs_p": "p.Gly719Val",
"transcript": "XM_017002793.3",
"protein_id": "XP_016858282.1",
"transcript_support_level": null,
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"aa_end": null,
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"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2156G>T",
"hgvs_p": "p.Gly719Val",
"transcript": "XM_047434121.1",
"protein_id": "XP_047290077.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 806,
"cds_start": 2156,
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"cdna_start": 2725,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2156G>T",
"hgvs_p": "p.Gly719Val",
"transcript": "XM_047434129.1",
"protein_id": "XP_047290085.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 806,
"cds_start": 2156,
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"cdna_start": 2685,
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"cdna_length": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.2153G>T",
"hgvs_p": "p.Gly718Val",
"transcript": "XM_047434130.1",
"protein_id": "XP_047290086.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 805,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2617,
"cdna_end": null,
"cdna_length": 3221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
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{
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"verdict": "Likely_benign",
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"clinvar_disease": "",
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}
],
"message": null
}