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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: 9-137800914-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137800914&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137800914,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000460843.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2642C>T",
"hgvs_p": "p.Thr881Ile",
"transcript": "NM_024757.5",
"protein_id": "NP_079033.4",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1298,
"cds_start": 2642,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 2666,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "ENST00000460843.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2642C>T",
"hgvs_p": "p.Thr881Ile",
"transcript": "ENST00000460843.6",
"protein_id": "ENSP00000417980.1",
"transcript_support_level": 5,
"aa_start": 881,
"aa_end": null,
"aa_length": 1298,
"cds_start": 2642,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 2666,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "NM_024757.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Thr874Ile",
"transcript": "NM_001354263.2",
"protein_id": "NP_001341192.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1291,
"cds_start": 2621,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 2645,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Thr850Ile",
"transcript": "ENST00000637161.1",
"protein_id": "ENSP00000490328.1",
"transcript_support_level": 5,
"aa_start": 850,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2549,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2528C>T",
"hgvs_p": "p.Thr843Ile",
"transcript": "ENST00000636027.1",
"protein_id": "ENSP00000489961.1",
"transcript_support_level": 5,
"aa_start": 843,
"aa_end": null,
"aa_length": 980,
"cds_start": 2528,
"cds_end": null,
"cds_length": 2945,
"cdna_start": 2697,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.212C>T",
"hgvs_p": "p.Thr71Ile",
"transcript": "ENST00000482340.5",
"protein_id": "ENSP00000486748.1",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 117,
"cds_start": 212,
"cds_end": null,
"cds_length": 354,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.212C>T",
"hgvs_p": "p.Thr71Ile",
"transcript": "ENST00000493484.5",
"protein_id": "ENSP00000486503.1",
"transcript_support_level": 3,
"aa_start": 71,
"aa_end": null,
"aa_length": 107,
"cds_start": 212,
"cds_end": null,
"cds_length": 324,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2651C>T",
"hgvs_p": "p.Thr884Ile",
"transcript": "XM_011519021.4",
"protein_id": "XP_011517323.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1301,
"cds_start": 2651,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2648C>T",
"hgvs_p": "p.Thr883Ile",
"transcript": "XM_011519022.4",
"protein_id": "XP_011517324.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1300,
"cds_start": 2648,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 3136,
"cdna_end": null,
"cdna_length": 5565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2633C>T",
"hgvs_p": "p.Thr878Ile",
"transcript": "XM_047423872.1",
"protein_id": "XP_047279828.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1295,
"cds_start": 2633,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2630C>T",
"hgvs_p": "p.Thr877Ile",
"transcript": "XM_011519023.4",
"protein_id": "XP_011517325.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1294,
"cds_start": 2630,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 2731,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2627C>T",
"hgvs_p": "p.Thr876Ile",
"transcript": "XM_017015134.2",
"protein_id": "XP_016870623.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1293,
"cds_start": 2627,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 3115,
"cdna_end": null,
"cdna_length": 5544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2612C>T",
"hgvs_p": "p.Thr871Ile",
"transcript": "XM_047423873.1",
"protein_id": "XP_047279829.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1288,
"cds_start": 2612,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 10889,
"cdna_end": null,
"cdna_length": 13318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2573C>T",
"hgvs_p": "p.Thr858Ile",
"transcript": "XM_047423874.1",
"protein_id": "XP_047279830.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1275,
"cds_start": 2573,
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"cdna_start": 2674,
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"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2555C>T",
"hgvs_p": "p.Thr852Ile",
"transcript": "XM_047423875.1",
"protein_id": "XP_047279831.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1269,
"cds_start": 2555,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2552C>T",
"hgvs_p": "p.Thr851Ile",
"transcript": "XM_047423876.1",
"protein_id": "XP_047279832.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1268,
"cds_start": 2552,
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"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 5082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Thr850Ile",
"transcript": "XM_005266110.2",
"protein_id": "XP_005266167.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2549,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 2602,
"cdna_end": null,
"cdna_length": 5031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Thr850Ile",
"transcript": "XM_047423877.1",
"protein_id": "XP_047279833.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2549,
"cds_end": null,
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"cdna_start": 2745,
"cdna_end": null,
"cdna_length": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2549C>T",
"hgvs_p": "p.Thr850Ile",
"transcript": "XM_047423878.1",
"protein_id": "XP_047279834.1",
"transcript_support_level": null,
"aa_start": 850,
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"cds_start": 2549,
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"cdna_start": 2705,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2528C>T",
"hgvs_p": "p.Thr843Ile",
"transcript": "XM_017015138.2",
"protein_id": "XP_016870627.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2528,
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"cdna_start": 2581,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2528C>T",
"hgvs_p": "p.Thr843Ile",
"transcript": "XM_047423879.1",
"protein_id": "XP_047279835.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2528,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 2648,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.2507C>T",
"hgvs_p": "p.Thr836Ile",
"transcript": "XM_047423880.1",
"protein_id": "XP_047279836.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1253,
"cds_start": 2507,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 2608,
"cdna_end": null,
"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
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"verdict": "Likely_benign",
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"gene_symbol": "EHMT1",
"hgnc_id": 24650,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2642C>T",
"hgvs_p": "p.Thr881Ile"
}
],
"clinvar_disease": "Kleefstra syndrome 1,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 B:1",
"phenotype_combined": "not specified|Kleefstra syndrome 1|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}