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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: 9-137813154-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137813154&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137813154,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000460843.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.3016G>A",
"hgvs_p": "p.Val1006Met",
"transcript": "NM_024757.5",
"protein_id": "NP_079033.4",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3016,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3040,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "ENST00000460843.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.3016G>A",
"hgvs_p": "p.Val1006Met",
"transcript": "ENST00000460843.6",
"protein_id": "ENSP00000417980.1",
"transcript_support_level": 5,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3016,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3040,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "NM_024757.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2995G>A",
"hgvs_p": "p.Val999Met",
"transcript": "NM_001354263.2",
"protein_id": "NP_001341192.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1291,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3019,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2923G>A",
"hgvs_p": "p.Val975Met",
"transcript": "ENST00000637161.1",
"protein_id": "ENSP00000490328.1",
"transcript_support_level": 5,
"aa_start": 975,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2902G>A",
"hgvs_p": "p.Val968Met",
"transcript": "ENST00000636027.1",
"protein_id": "ENSP00000489961.1",
"transcript_support_level": 5,
"aa_start": 968,
"aa_end": null,
"aa_length": 980,
"cds_start": 2902,
"cds_end": null,
"cds_length": 2945,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.3025G>A",
"hgvs_p": "p.Val1009Met",
"transcript": "XM_011519021.4",
"protein_id": "XP_011517323.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3025,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 3126,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.3022G>A",
"hgvs_p": "p.Val1008Met",
"transcript": "XM_011519022.4",
"protein_id": "XP_011517324.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3022,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 3510,
"cdna_end": null,
"cdna_length": 5565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.3007G>A",
"hgvs_p": "p.Val1003Met",
"transcript": "XM_047423872.1",
"protein_id": "XP_047279828.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.3004G>A",
"hgvs_p": "p.Val1002Met",
"transcript": "XM_011519023.4",
"protein_id": "XP_011517325.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3105,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.3001G>A",
"hgvs_p": "p.Val1001Met",
"transcript": "XM_017015134.2",
"protein_id": "XP_016870623.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1293,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 5544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2986G>A",
"hgvs_p": "p.Val996Met",
"transcript": "XM_047423873.1",
"protein_id": "XP_047279829.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1288,
"cds_start": 2986,
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"cdna_start": 11263,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2947G>A",
"hgvs_p": "p.Val983Met",
"transcript": "XM_047423874.1",
"protein_id": "XP_047279830.1",
"transcript_support_level": null,
"aa_start": 983,
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"aa_length": 1275,
"cds_start": 2947,
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"cdna_start": 3048,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2929G>A",
"hgvs_p": "p.Val977Met",
"transcript": "XM_047423875.1",
"protein_id": "XP_047279831.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1269,
"cds_start": 2929,
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"cdna_start": 3065,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "EHMT1",
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"hgvs_p": "p.Val976Met",
"transcript": "XM_047423876.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2923G>A",
"hgvs_p": "p.Val975Met",
"transcript": "XM_005266110.2",
"protein_id": "XP_005266167.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
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"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2923G>A",
"hgvs_p": "p.Val975Met",
"transcript": "XM_047423877.1",
"protein_id": "XP_047279833.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2923G>A",
"hgvs_p": "p.Val975Met",
"transcript": "XM_047423878.1",
"protein_id": "XP_047279834.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2902G>A",
"hgvs_p": "p.Val968Met",
"transcript": "XM_017015138.2",
"protein_id": "XP_016870627.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
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"cds_start": 2902,
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},
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"gene_symbol": "EHMT1",
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"hgvs_p": "p.Val968Met",
"transcript": "XM_047423879.1",
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},
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],
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
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"hgvs_c": "c.2881G>A",
"hgvs_p": "p.Val961Met",
"transcript": "XM_047423880.1",
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},
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],
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"hgvs_p": "p.Val949Met",
"transcript": "XM_047423881.1",
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"transcript_support_level": null,
"aa_start": 949,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2824G>A",
"hgvs_p": "p.Val942Met",
"transcript": "XM_047423882.1",
"protein_id": "XP_047279838.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2824,
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"cdna_start": 2877,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "not specified|Kleefstra syndrome 1|Inborn genetic diseases|EHMT1-related disorder|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}